BTD Database

  • Reference sequences were NC_000003.10 and NM_000060.2. cDNA number 1 is the "A" of the start codon.
  • Frameshift is documented by the original amino acid followed by the codon number and "fs" (ex. Leu159 fs).
  • Click any Column Header to sort the display. Mouse over Comments icon for additional details.
  • "Live Search" any term in the search box, such as "exon" , "missense", "benign" , etc...
  • Due to instability of the biotinidase enzyme, ARUP and other laboratories require samples submitted for biotinidase activity testing be accompanied by a paired control drawn at the same time as the patient. This paired control should be collected from a normal, healthy individual who is not biologically related to the patient. ARUP's normal reference range for this assay is 3.5-13.8 U/L.


202 variants found

Genomic Position Location Mutation Type Nucleotide Change Protein Change Classification Symptomatic Patient References Comments
15618328 5'UTR Silent c.1-34C>T Benign unknown Procter et al, unpublished
15651988 Exon 02 Indel c.98_104delinsTCC p.C33fs Pathogenic yes Pomponio (1997a)  
15651988;15652102 Exon 02; Exon 02 Indel; Missense c.98_104delinsTCC; 212T>C p.C33fs; p.L71P Pathogenic; Pathogenic unknown Wolf (2005)
15651989 Exon 02 Slient c.99C>T p.C33C Benign no Wolf (2005)  
15651990 Exon 02 Missense c.100G>A p.G34S Pathogenic yes Pomponio (1997c)
15652018 Exon 02 Missense c.128A>G p.H43R Uncertain unknown Procter et al, unpublished
15652023 Exon 02 Missense c.133G>A p.G45R Pathogenic yes Neto (2004)  
15652023;15661232 Exon 02; Exon 04 Missense;Missense c.133G>A; 865G>C p.G45R; A289P Pathogenic unknown Norrgard (1999)
15652023;15661638 Exon 02; Exon 04 Missense;Missense c.133G>A; 1271G>C p.G45R; C424S Pathogenic unknown Wolf (2005)
15652026 Exon 02 Nonsense c.136G>T p.E46X Pathogenic unknown Milankovics (2007)  
15652049;15652050 Exon 02 Missense;Nonsense c.159C>A; 160G>T p.H53Q;p.E54X Pathogenic yes Wolf (2005)
15652061 Exon 02 Nonsense c.171T>G p.Y57X Pathogenic yes Pomponio (2000a)  
15652074 Exon 02 Missense c.184G>T p.V62L Pathogenic unknown Norrgard (1999)  
15652074 Exon 02 Missense c.184G>A p.V62M Pathogenic yes Muhl (2001)  
15652080 Exon 02 Missense c.190G>A p.E64K Pathogenic yes Wolf (2002)  
15652082 Exon 02 Missense c.192G>C p.E64D Uncertain unknown Procter et al, unpublished
15652084 Exon 02 Insertion c.194ins4 p.H65fs Pathogenic yes Sivri (2007)  
15652084 Exon 02 Missense c.194A>G p.H65R Pathogenic unknown Sarafoglou (2009)  
15652101 Exon 02 Slient c.211C>T p.L71L Benign unknown Ohlsson (2010)  
15652102 Exon 02 Missense c.212T>C p.L71P Pathogenic unknown Wolf (2005)  
15652102;15652126 Ex2;Ex2 Missense;Missense c.212T>C; 236G>A p.L71P;R79H Pathogenic yes Laszlo (2003)
15652124 Exon 02 Slient c.234C>T p.S78S Benign unknown Hymes (2001)  
15652125 Exon 02 Missense c.235C>T p.R79C Pathogenic yes Pomponio (2000a)  
15652125;15660837 Exon 02; Exon 04 Missense;Missense c.235C>T;470G>A p.R79C;R157H Pathogenic yes Baykal (2005)
15652125;15661728 Exon 02; Exon 04 Missense;Missense c.235C>T;1361A>C p.R79C;Y454C Pathogenic yes Wolf (2005)
15652126 Exon 02 Missense c.236G>A p.R79H Pathogenic unknown Neto (2004)  
15652135 Exon 02 Missense c.245C>A p.A82D Pathogenic unknown Laszlo (2003)  
15652135 Exon 02 Missense c.245C>T p.A82V Suspected pathogenic unknown Procter et al, unpublished
15652136 Exon 02 Deletion c.246_254del p.L83-L85del Pathogenic yes Pomponio (1997a)  
15652138 Exon 02 Missense c.248T>C p.L83S Pathogenic unknown Ohlsson (2010)  
15652147 Exon 02 Missense c.257T>G p.M86R Pathogenic yes Li (2014)
15652151 Exon 02 Missense c.261C>T p.N87N Benign unknown Procter et al, unpublished
15652152 Exon 02 Nonsense c.262C>T p.Q88X Pathogenic yes Pomponio (1997a)  
15652168 Exon 02 Missense c.278A>G p.Y93C Pathogenic yes Wolf (2002)  
15652173;15661697 Exon 02; Exon 04 Nonsense;Missense c.283C>T;1330G>C p.Q95X;D444H Pathogenic yes Wolf (2005)
15652188 Exon 02 Missense c.298G>A p.A100T Pathogenic yes Wolf (2002)  
15658419 Exon 03 Missense c.310G>T p.D104Y Pathogenic unknown Norrgard (1999)  
15658419 Intron 02 mRNA expression c.310-15delT Intronic Pathogenic no Li (2014)
15658430 Exon 03 Missense c.321T>G p.I107M Uncertain unknown Procter et al, unpublished
15658432 Exon 03 Insertion c.323-324dupTA p.V109X Pathogenic yes Tiar (2014)  
15658435 Exon 03 Insertion c.326dupT p.V109fs Pathogenic unknown Procter et al, unpublished
15658435 Exon 03 Missense c.326T>G p.V109G Pathogenic unknown Muhl (2001)  
15658443 Exon 03 Missense c.334G>C p.E112Q Pathogenic yes Pomponio (1997a)  
15658443 Exon 03 Missense c.334G>A p.E112K Pathogenic yes Laszlo (2003)  
15658450 Exon 03 Missense c.341G>T p.G114V Pathogenic yes Wolf (2005)  
15658465 Exon 03 Missense c.356A>G p.N119S Suspected pathogenic unknown Procter et al, unpublished
15658473 Exon 03 Missense c.364A>G p.R122G Pathogenic unknown Norrgard (1999)  
15658491 Exon 03 Missense c.382T>G p.F128V Pathogenic unknown Swango (1998)  
15658502 Exon 03 Deletion c.393del p.F131fs Pathogenic yes Wolf (2002)  
15658508 Exon 03 Silent c.399G>A p.P133P Benign unknown Procter et al, unpublished
15658515 Exon 03 Deletion c.406delC p.Q136fs Pathogenic unknown Procter et al, unpublished
15658516 Exon 03 Insertion c.407_408insA p.Q136fs Pathogenic unknown Onay H et al, unpublished
15658533 Exon 03 Missense c.424C>A p.P142T Pathogenic yes Sarafoglou (2009)  
15658537/15683532 Exon 03 Missense c.428G>T p.C143F Suspected pathogenic yes Onay H et al, unpublished
15658552 Exon 03 Missense c.443G>A p.R148H Pathogenic unknown Ohlsson (2010)  
15658553 Exon 03 Slient c.444C>A p.A148A Benign unknown Pico and Couce (1999)  
15658554 Exon 03 Missense c.445T>C p.F149L Pathogenic unknown Norrgard (1999)  
15658563 Exon 03 Missense c.454A>C p.T152P Pathogenic unknown Milankovics (2007)  
15658564 Exon 03 Missense c.455C>G p.T152R Pathogenic no Li (2014)
15658568 Exon 04 Slice Site c.459G>A p.E153E Pathogenic yes Pomponio (1997a)  
15658569 Exon 04 Insertion c.460-7_8 insT p.V154fs Benign unknown Procter et al, unpublished
15660833 Exon 04 Nonsense c.466C>T p.Q156X Pathogenic yes Pomponio (2000b)  
15660836 Exon 04 Missense c.469C>T p.R157C Pathogenic unknown Milankovics (2007)  
15660837 Exon 04 Missense c.470G>A p.R157H Pathogenic yes Pomponio (1997a)  
15660837;15661697 Exon 04;Exon 04 Missense;Missense c.470G>A;1330G>C p.R157H;D444H Pathogenic unknown Norrgard (1999)
15660852 Exon 04 Missense c.485C>T p.A162V Pathogenic unknown Norrgard (1999)  
15660857 Exon 04 Deletion c.490_491del p.R164fs Pathogenic yes Pomponio (2000b)  
15660878;15661697 Exon 04; Exon 04   Missense; Missense c.511G>A;1330G>C p.A171T; D444H Pathogenic yes Norrgard (1999)
15660882 Exon 04 Missense c.515A>G p.N172S Pathogenic unknown Muhl (2001)  
15660885 Exon 04 Missense c.518T>G p.L173R Pathogenic yes Monaghan and Wolf, unpublished  
15660895 Exon 04 Missense c.528G>T p.K176N Pathogenic unknown Norrgard (1999)  
15660911 Exon 04 Deletion c.544del p.S182fs Pathogenic yes Pomponio (2000b)  
15660924 Exon 04 Missense c.557G>A p.C186Y Pathogenic unknown Pomponio (2000a)  
15660926 Exon 04 Missense c.559C>T p.P187S Pathogenic unknown Iqbal (2010)  
15660933 Exon 04 Missense c.566A>G p.D189G Uncertain unknown Procter et al, unpublished
15660949 Exon 04 Missense c.582C>G p.F194L Uncertain unknown Procter et al, unpublished
15660950 Exon 04 Missense c.583A>G p.N195D Pathogenic yes Pomponio (1997a)  
15660951 Exon 04 Missense c.584A>G p.N195S Pathogenic unknown Milankovics (2007)  
15660954 Exon 04 Missense c.587C>G p.T196R Pathogenic yes Pomponio (2000a)  
15660961 Exon 04 Deletion c.594_596del p.V199del Pathogenic yes Pomponio (1997a)  
15660961 Exon 04 Deletion c.594del p.V198fs Pathogenic unknown Funghini (2002)  
15660962 Exon 04 Missense c.595G>A p.V199M Pathogenic unknown Wolf (2002)  
15660972 Exon 04 Missense c.605A>T p.N202I Pathogenic unknown Ohlsson (2010)  
15660992 Exon 04 Missense c.625C>T p.R209C Uncertain unknown Procter et al, unpublished
15660993 Exon 04 Missense c.626G>A p.R209H Pathogenic no Li (2014)
15660996 Exon 04 Missense c.629A>G p.Y210C Pathogenic yes Pomponio (1997a)  
15660998 Exon 04 Missense c.631C>T p.R211C Pathogenic unknown Norrgard (1999)  
15660998 Exon 04 Deletion c.631delC p.R211VfsX53 Pathogenic yes Tiar (2014)  
15660999 Exon 04 Missense c.632G>A p.R211H Uncertain unknown Thodi (2011)  
15661008 Exon 04 Missense;Missense c.641A>G p.N214S Pathogenic yes Wolf (2005)
15661008;15661697 Exon 04; Exon 04 Missense;Missense c.641A>G;1330G>C p.N214S;D444H Pathogenic yes Wolf (2005)
15661010 Exon 04 Missense c.643C>T p.L215F Pathogenic yes Pomponio (1997a)  
15661012 Exon 04 Slient c.645C>T p.L215L Benign unknown Hymes (2001)  
15661019 Exon 04 Missense c.652G>C p.E218Q Pathogenic yes Laszlo (2003)  
15661021 Exon 04 Missense c.654G>C p.E218D Pathogenic unknown Wolf (2005)  
15661031 Exon 04 Missense c.664G>C p.D222H Suspected pathogenic unknown Procter et al, unpublished
15661049 Exon 04 Missense c.682G>T p.D228Y Pathogenic unknown Swango (1998)  
15661050 Exon 04 Missense c.683A>G p.D228G Pathogenic no Li (2014)
15661059 Exon 04 Deletion c.692delC p.T231fs Pathogenic unknown Procter et al, unpublished
15661068 Exon 04 Missense c.701C>T p.T234I Pathogenic no Li (2014)
15661076 Exon 04 Missense c.709G>A p.A237T Uncertain unknown Procter et al, unpublished
15661101 Exon 04 Missense c.734G>A p.C245Y Pathogenic yes Wolf (2005)  
15661110 Exon 04 Missense c.743T>C p.I248IT Suspected pathogenic unknown Procter et al, unpublished
15661122 Exon 04 Missense c.755A>G p.D252G Pathogenic unknown Norrgard (1999)  
15661124 Exon 04 Missense c.757C>T p.P253S Pathogenic yes Wolf (2005)  
15661125 Exon 04 Missense c.758C>T p.P253L Suspected pathogenic unknown Procter et al, unpublished
15661131 Exon 04 Missense c.764T>C P.I255T Pathogenic unknown Ohlsson (2010)  
15661137 Exon 04 Missense c.770T>A p.V257D Uncertain unknown Procter et al, unpublished
15661150 Exon 04 Nonsense c.783C>G p.Y261X Pathogenic unknown Procter et al, unpublished
15661161 Exon 04 Missense c.794A>T p.H265L Pathogenic yes Wolf (2002)  
15661161;15661300 Exon 04 Missense;Missense c.794A>T;933T>G p.H265L;S311R Pathogenic yes Iqbal (2010)
15661181 Exon 04 Missense c.814T>G p.W272G Suspected pathogenic unknown Procter et al, unpublished
15661199 Exon 04 Missense c.832C>G p.L278V Pathogenic yes Laszlo (2003)  
15661200 Exon 04 Missense c.833T>C p.L278P Pathogenic yes Pomponio (1997a)  
15661203 Exon 04 Missense c.836T>G p.L279W Pathogenic unknown Muhl (2001)  
15661223 Exon 04 Missense c.856A>G p.K286E Uncertain unknown Procter et al, unpublished
15661247 Exon 04 Missense c.880A>G p.I294V Uncertain unknown Procter et al, unpublished
15661254 Exon 04 Missense c.887T>G p.V296G Pathogenic yes Wolf (2002)  
15661262 Exon 04 Missense c.895G>C p.A299P Uncertain unknown Procter et al, unpublished
15661263 Exon 04 Missense c.896C>T p.A299V Pathogenic unknown Pico and Couce (1999)  
15661265 Exon 04 Missense c.898A>C p.N300H Pathogenic no Li (2014)
15661296 Exon 04 Missense c.929G>A p.G310E Pathogenic unknown Pomponio (2000a)  
15661299 Exon 04 Missense c.932G>A p.S311N Pathogenic unknown Norrgard (1999)  
15661300 Exon 04 Deletion c.933delT p.S311fs Pathogenic yes Pomponio (1997a)  
15661300 Exon 04 Missense c.933T>G p.S311R Pathogenic yes Iqbal (2010)
15661301 Exon 04 Missense c.934G>A p.G312S Pathogenic yes Wolf (2002)  
15661302 Exon 04 Missense c.935G>A p.G312D Pathogenic yes Pomponio (1997a)  
15661335 Exon 04 Missense c.968A>G p.H323R Pathogenic unknown Swango (1998)  
15661368 Exon 04 Missense c.1001T>A p.I334N Suspected pathogenic unknown Procter et al, unpublished
15661413 Exon 04 Missense c.1046A>C p.N349T Uncertain unknown Procter et al, unpublished
15661416 Exon 04 Deletion c.1049del p.A350fs Pathogenic yes Wolf (2002)  
15661419 Exon 04 Deletion c.1052del p.T351fs Pathogenic yes Wolf (2002)  
15661463 Exon 04 Missense c.1096T>C p.S366P Pathogenic yes Wolf (1998)  
15661463 Exon 04 Duplication c.1096-1097dupTC p.S366fs Pathogenic unknown Procter et al, unpublished
15661473 Exon 04 Missense c.1106C>T p.P369L Pathogenic yes Wolf (2002)  
15661493 Exon 04 Nonsense c.1126C>T p.Q376X Pathogenic unknown Procter et al, unpublished
15661524 Exon 04 Nonsense c.1157G>A p.W386X Pathogenic unknown Wolf (2005)  
15661525 Exon 04 Nonsense c.1158G>A p.W386X Pathogenic unknown Norrgard (1999)  
15661538 Exon 04 Missense c.1171C>T p.P391S Benign unknown Hymes (2001)  
15661538;15661701 Exon 04; Exon 04 Missense;Missense c.1171C>T;1334G>T p.P391S;G445V Pathogenic yes Wolf (2005)
15661558 Exon 04 Deletion c.1191_1192del p.E397fs Pathogenic unknown Wolf (2002)  
15661572 Exon 04 Missense c.1205A>G p.N402S Pathogenic unknown Ohlsson (2010)  
15661574;15661697 Exon 04; Exon 04 Missense;Missense c.1207T>G;1330G>C p.F403V;D444H Pathogenic unknown Norrgard (1999)
15661578 Exon 04 Missense c.1211C>T p.T404I Pathogenic yes Funghini (2002)  
15661581 Exon 04 Missense c.1214T>C p.L405P Pathogenic unknown Ohlsson (2010)  
15661594 Exon 04 Indel c.1227_1241delins11 p.W409fs Pathogenic unknown Norrgard (1999)  
15661604 Exon 04 Missense c.1237G>A p.G413S Pathogenic yes Monaghan and Wolf, unpublished  
15661606 Exon 04 Deletion c.1239del p.G413fs Pathogenic unknown Wolf (2002)  
15661606 Exon 04 Deletion c.1239_1250del p.Y414-V417del Pathogenic unknown Wolf (2002)  
15661607 Exon 04 Deletion c.1240_1251del p.Y414-V417del Pathogenic yes Pomponio (1997a)  
15661608 Exon 04 Deletion c.1241_1252del12bp p.Y414fs Pathogenic unknown Procter et al, unpublished  
15661616 Exon 04 Missense c.1249G>T p.V417F Pathogenic unknown Sarafoglou (2009)  
15661619 Exon 04 Missense c.1252T>C p.C418R Suspected pathogenic unknown Procter et al, unpublished
15661620 Exon 04 Missense c.1253G>C p.C418S Pathogenic yes Laszlo (2003)  
15661631 Exon 04 Duplication c.1264dup p.G421fs Pathogenic yes Iqbal (2010)  
15661634 Exon 04 Missense c.1267T>C p.C423R Pathogenic yes Pomponio (1997a)  
15661635 Exon 04 Missense c.1268G>C p.C423W Pathogenic unknown Muhl (2001)  
15661638 Exon 04 Missense c.1271G>A p.C424Y Pathogenic unknown Wolf (2005)  
15661638 Exon 04 Missense c.1271G>C p.C424S Pathogenic unknown Wolf (2005)  
15661642 Exon 04 Nonsense c.1275T>G p.Y425X Pathogenic unknown Iqbal (2010)  
15661651 Exon 04 Nonsense c.1284C>A p.Y428X Pathogenic yes Wang (2009)  
15661651;15661856 Exon 04;Exon 04 Silent;Missense c.1284C>T;1489C>T p.Y428Y;P497S Pathogenic unknown Wolf (2005)
15661680 Exon 04 Missense c.1313A>G p.Y438C Pathogenic yes Wolf (2002)  
15661681 Exon 04 Nonsense c.1314T>A p.Y438X Pathogenic unknown Neto (2004)  
15661697 Exon 04 Missense c.1330G>C p.D444H Pathogenic yes Swango (1998)  
15661700 Exon 04 Missense c.1333G>A p.G445R Pathogenic unknown Ohlsson (2010)  
15661701 Exon 04 Missense c.1334G>T p.G445V Pathogenic yes Pomponio (1997a)  
15661701 Exon 04 Missense c.1334G>A p.G445E Suspected pathogenic unknown Procter et al, unpublished
15661706 Exon 04 Missense c.1339C>T p.H447Y Pathogenic yes Chedrawi AK (2008)  
15661719 Exon 04 Missense c.1352G>A p.G451D Pathogenic unknown Swango (1998)
15661719 Exon 04 Deletion c.1352_1353delGC p.G451fs Suspected pathogenic unknown Procter et al, unpublished
15661728 Exon 04 Missense c.1361A>G p.Y454C Pathogenic unknown Wolf (2005)
15661735 Exon 04 Missense c.1368A>C p.Q456H Pathogenic yes Norrgard (1999)  
15661736 Exon 04 Missense c.1369G>A p.V457M Pathogenic yes Pomponio (1997a)  
15661739 Exon 04 Insertion c.1372_1373insT p.C458fs Pathogenic no Li (2014)
15661751 Exon 04 Deletion c.1384del p.V461fs Pathogenic yes Wang (2009)  
15661755 Exon 04 Missense c.1388G>A p.C463Y Pathogenic yes Wolf (2002)  
15661761 Exon 04 Indel c.1394dupG p.L466fs Pathogenic yes Couce (2011)  
15661780 Exon 04 Slient c.1413T>C p.C471C Benign no Pomponio (1998)  
15661799 Exon 04 Missense c.1432G>C p.A478P Pathogenic unknown Sarafoglou (2009)  
15661799 Exon 04 Missense c.1432G>A p.A478T Suspected pathogenic unknown Procter et al, unpublished
15661822 Exon 04 Missense c.1455C>G p.H485Q Uncertain unknown Procter et al, unpublished
15661825 Exon 04 Deletion c.1458delG p.L486fs Pathogenic unknown Procter et al, unpublished
15661826 Exon 04 Missense c.1459T>C p.W487R Pathogenic yes Pomponio (2000b)  
15661826 Exon 04 Deletion c.1459delT p.W487fs Uncertain unknown Procter et al, unpublished
15661830 Exon 04 Missense c.1463G>A p.G488D Pathogenic yes Pomponio (1997a)  
15661833 Exon 04 Missense c.1466A>C p.N489T Pathogenic no Pomponio (1998)  
15661848 Exon 04 Missense c.1481A>G p.Y494C Uncertain unknown Procter et al, unpublished
15661856 Exon 04 Missense c.1489C>T p.P497S Pathogenic yes Norrgard (1999)  
15661860 Exon 04 Duplication c.1493dup p.P498fs Pathogenic yes Wang (2009)  
15661878 Exon 04 Missense c.1511T>A p.M504K Pathogenic unknown Laszlo (2003)  
15661898 Exon 04 Missense c.1531G>C p.Q511E Pathogenic yes Wolf (2005)  
15661924 Exon 04 Missense c.1557T>G p.Y519X Pathogenic yes Tiar (2014)  
15661962 Exon 04 Missense c.1595C>T p.T532M Pathogenic yes Norrgard (1999)  
15661977 Exon 04 Missense c.1610G>A p.G537V Pathogenic yes Wolf (2002)  
15661979 Exon 04 Missense c.1612C>T p.R538C Pathogenic yes Pomponio (1997a)  
15661980 Exon 04 Missense c.1613G>A p.R538H Uncertain unknown Procter et al, unpublished
15661983 Exon 04 Duplication c.1616dup p.L539fs Pathogenic unknown Norrgard (1999)  
15661986 Exon 04 Missense c.1619A>G p.Y540C Pathogenic unknown Norrgard (1999)  
15661994 Exon 04 Missense c.1627G>C p.D543H Pathogenic unknown Muhl (2001)  
15661995 Exon 04 Missense c.1628A>T p.D543V Suspected pathogenic unknown Procter et al, unpublished
15661996 Exon 04 Missense c.1629C>A p.D543E Suspected pathogenic Suspected pathogenic Procter et al, unpublished