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.


203 variants found

Genomic Position Location Mutation Type Nucleotide Change Protein Change Classification Symptomatic Patient References Comments
15643324 5'UTR Silent c.-34C>T Benign unknown Procter et al, unpublished
15676984 Exon 2 Indel c.98_104delinsTCC p.C33fs Pathogenic yes Pomponio (1997a)  
15676984;15677098 Exon 2; Exon 2 Indel; Missense c.98_104delinsTCC; 212T>C p.C33fs; p.L71P Pathogenic; Pathogenic unknown Wolf (2005)
15676985 Exon 2 Slient c.99C>T p.C33C Benign no Wolf (2005)  
15676986 Exon 2 Missense c.100G>A p.G34S Pathogenic yes Pomponio (1997c)
15677014 Exon 2 Missense c.128A>G p.H43R Uncertain unknown Procter et al, unpublished
15677019 Exon 2 Missense c.133G>A p.G45R Pathogenic yes Neto (2004)  
15677019;15686228 Exon 2; Exon 4 Missense;Missense c.133G>A; 865G>C p.G45R; A289P Pathogenic unknown Norrgard (1999)
15677019;15686634 Exon 2; Exon 4 Missense;Missense c.133G>A; 1271G>C p.G45R; C424S Pathogenic unknown Wolf (2005)
15677022 Exon 2 Nonsense c.136G>T p.E46X Pathogenic unknown Milankovics (2007)  
15677045;15677046 Exon 2 Missense;Nonsense c.159C>A; 160G>T p.H53Q;p.E54X Pathogenic yes Wolf (2005)
15677057 Exon 2 Nonsense c.171T>G p.Y57X Pathogenic yes Pomponio (2000a)  
15677070 Exon 2 Missense c.184G>T p.V62L Pathogenic unknown Norrgard (1999)  
15677070 Exon 2 Missense c.184G>A p.V62M Pathogenic yes Muhl (2001)  
15677076 Exon 2 Missense c.190G>A p.E64K Pathogenic yes Wolf (2002)  
15677078 Exon 2 Missense c.192G>C p.E64D Uncertain unknown Procter et al, unpublished
15677080 Exon 2 Insertion c.194ins4 p.H65fs Pathogenic yes Sivri (2007)  
15677080 Exon 2 Missense c.194A>G p.H65R Pathogenic unknown Sarafoglou (2009)  
15677097 Exon 2 Slient c.211C>T p.L71L Benign unknown Ohlsson (2010)  
15677098 Exon 2 Missense c.212T>C p.L71P Pathogenic unknown Wolf (2005)  
15677098;15677122 Exon 2; Exon 2 Missense;Missense c.212T>C; 236G>A p.L71P;R79H Pathogenic yes Laszlo (2003)
15677120 Exon 2 Slient c.234C>T p.S78S Benign unknown Hymes (2001)  
15677121 Exon 2 Missense c.235C>T p.R79C Pathogenic yes Pomponio (2000a)  
15677121;15685833 Exon 2; Exon 4 Missense;Missense c.235C>T;470G>A p.R79C;R157H Pathogenic yes Baykal (2005)
15677121;15686724 Exon 2; Exon 4 Missense;Missense c.235C>T;1361A>C p.R79C;Y454C Pathogenic yes Wolf (2005)
15677122 Exon 2 Missense c.236G>A p.R79H Pathogenic unknown Neto (2004)  
15677131 Exon 2 Missense c.245C>A p.A82D Pathogenic unknown Laszlo (2003)  
15677131 Exon 2 Missense c.245C>T p.A82V Suspected pathogenic unknown Procter et al, unpublished
15677132 Exon 2 Deletion c.246_254del p.L83-L85del Pathogenic yes Pomponio (1997a)  
15677134 Exon 2 Missense c.248T>C p.L83S Pathogenic unknown Ohlsson (2010)  
15677143 Exon 2 Missense c.257T>G p.M86R Pathogenic yes Li (2014)
15677147 Exon 2 Missense c.261C>T p.N87N Benign unknown Procter et al, unpublished
15677148 Exon 2 Nonsense c.262C>T p.Q88X Pathogenic yes Pomponio (1997a)  
15677164 Exon 2 Missense c.278A>G p.Y93C Pathogenic yes Wolf (2002)  
15677169;15686693 Exon 2; Exon 4 Nonsense;Missense c.283C>T;1330G>C p.Q95X;D444H Pathogenic yes Wolf (2005)
15677184 Exon 2 Missense c.298G>A p.A100T Pathogenic yes Wolf (2002)  
15683415 Exon 3 Missense c.310G>T p.D104Y Pathogenic unknown Norrgard (1999)  
15683415 Intron 2 mRNA expression c.310-15delT Intronic Pathogenic no Li (2014)
15683426 Exon 3 Missense c.321T>G p.I107M Uncertain unknown Procter et al, unpublished
15683428 Exon 3 Insertion c.323-324dupTA p.V109X Pathogenic yes Tiar (2014)  
15683431 Exon 3 Insertion c.326dupT p.V109fs Pathogenic unknown Procter et al, unpublished
15683431 Exon 3 Missense c.326T>G p.V109G Pathogenic unknown Muhl (2001)  
15683439 Exon 3 Missense c.334G>C p.E112Q Pathogenic yes Pomponio (1997a)  
15683439 Exon 3 Missense c.334G>A p.E112K Pathogenic yes Laszlo (2003)  
15683446 Exon 3 Missense c.341G>T p.G114V Pathogenic yes Wolf (2005)  
15683461 Exon 3 Missense c.356A>G p.N119S Suspected pathogenic unknown Procter et al, unpublished
15683469 Exon 3 Missense c.364A>G p.R122G Pathogenic unknown Norrgard (1999)  
15683487 Exon 3 Missense c.382T>G p.F128V Pathogenic unknown Swango (1998)  
15683498 Exon 3 Deletion c.393del p.F131fs Pathogenic yes Wolf (2002)  
15683504 Exon 3 Silent c.399G>A p.P133P Benign unknown Procter et al, unpublished
15683511 Exon 3 Deletion c.406delC p.Q136fs Pathogenic unknown Procter et al, unpublished
15683512 Exon 3 Insertion c.407_408insA p.Q136fs Pathogenic unknown Onay H et al, unpublished
15683529 Exon 3 Missense c.424C>A p.P142T Pathogenic yes Sarafoglou (2009)  
15683533 Exon 3 Missense c.428G>T p.C143F Suspected pathogenic yes Onay H et al, unpublished
15683548 Exon 3 Missense c.443G>A p.R148H Pathogenic unknown Ohlsson (2010)  
15683549 Exon 3 Slient c.444C>A p.A148A Benign unknown Pico and Couce (1999)  
15683550 Exon 3 Missense c.445T>C p.F149L Pathogenic unknown Norrgard (1999)  
15683559 Exon 3 Missense c.454A>C p.T152P Pathogenic unknown Milankovics (2007)  
15683560 Exon 3 Missense c.455C>G p.T152R Pathogenic no Li (2014)
15683564 Exon 4 Slice Site c.459G>A p.E153E Pathogenic yes Pomponio (1997a)  
15683565 Exon 4 Insertion c.460-7_8 insT p.V154fs Benign unknown Procter et al, unpublished
15685829 Exon 4 Nonsense c.466C>T p.Q156X Pathogenic yes Pomponio (2000b)  
15685832 Exon 4 Missense c.469C>T p.R157C Pathogenic unknown Milankovics (2007)  
15685833 Exon 4 Missense c.470G>A p.R157H Pathogenic yes Pomponio (1997a)  
15685833;15686693 Exon 4;Exon 4 Missense;Missense c.470G>A;1330G>C p.R157H;D444H Pathogenic unknown Norrgard (1999)
15685848 Exon 4 Missense c.485C>T p.A162V Pathogenic unknown Norrgard (1999)  
15685853 Exon 4 Deletion c.490_491del p.R164fs Pathogenic yes Pomponio (2000b)  
15685874;15686693 Exon 4; Exon 4   Missense; Missense c.511G>A;1330G>C p.A171T; D444H Pathogenic yes Norrgard (1999)
15685878 Exon 4 Missense c.515A>G p.N172S Pathogenic unknown Muhl (2001)  
15685881 Exon 4 Missense c.518T>G p.L173R Pathogenic yes Monaghan and Wolf, unpublished  
15685891 Exon 4 Missense c.528G>T p.K176N Pathogenic unknown Norrgard (1999)  
15685907 Exon 4 Deletion c.544del p.S182fs Pathogenic yes Pomponio (2000b)  
15685920 Exon 4 Missense c.557G>A p.C186Y Pathogenic unknown Pomponio (2000a)  
15685922 Exon 4 Missense c.559C>T p.P187S Pathogenic unknown Iqbal (2010)  
15685929 Exon 4 Missense c.566A>G p.D189G Uncertain unknown Procter et al, unpublished
15685945 Exon 4 Missense c.582C>G p.F194L Uncertain unknown Procter et al, unpublished
15685946 Exon 4 Missense c.583A>G p.N195D Pathogenic yes Pomponio (1997a)  
15685947 Exon 4 Missense c.584A>G p.N195S Pathogenic unknown Milankovics (2007)  
15685950 Exon 4 Missense c.587C>G p.T196R Pathogenic yes Pomponio (2000a)  
15685957 Exon 4 Deletion c.594_596del p.V199del Pathogenic yes Pomponio (1997a)  
15685957 Exon 4 Deletion c.594del p.V198fs Pathogenic unknown Funghini (2002)  
15685958 Exon 4 Missense c.595G>A p.V199M Pathogenic unknown Wolf (2002)  
15685968 Exon 4 Missense c.605A>T p.N202I Pathogenic unknown Ohlsson (2010)  
15685988 Exon 4 Missense c.625C>T p.R209C Uncertain unknown Procter et al, unpublished
15685989 Exon 4 Missense c.626G>A p.R209H Pathogenic no Li (2014)
15685992 Exon 4 Missense c.629A>G p.Y210C Pathogenic yes Pomponio (1997a)  
15685994 Exon 4 Missense c.631C>T p.R211C Pathogenic unknown Norrgard (1999)  
15685994 Exon 4 Deletion c.631delC p.R211VfsX53 Pathogenic yes Tiar (2014)  
15685995 Exon 4 Missense c.632G>A p.R211H Uncertain unknown Thodi (2011)  
15686004 Exon 4 Missense;Missense c.641A>G p.N214S Pathogenic yes Wolf (2005)
15686004;15686693 Exon 4; Exon 4 Missense;Missense c.641A>G;1330G>C p.N214S;D444H Pathogenic yes Wolf (2005)
15686006 Exon 4 Missense c.643C>T p.L215F Pathogenic yes Pomponio (1997a)  
15686008 Exon 4 Slient c.645C>T p.L215L Benign unknown Hymes (2001)  
15686015 Exon 4 Missense c.652G>C p.E218Q Pathogenic yes Laszlo (2003)  
15686017 Exon 4 Missense c.654G>C p.E218D Pathogenic unknown Wolf (2005)  
15686027 Exon 4 Missense c.664G>C p.D222H Suspected pathogenic unknown Procter et al, unpublished
15686045 Exon 4 Missense c.682G>T p.D228Y Pathogenic unknown Swango (1998)  
15686046 Exon 4 Missense c.683A>G p.D228G Pathogenic no Li (2014)
15686055 Exon 4 Deletion c.692delC p.T231fs Pathogenic unknown Procter et al, unpublished
15686064 Exon 4 Missense c.701C>T p.T234I Pathogenic no Li (2014)
15686072 Exon 4 Missense c.709G>A p.A237T Uncertain unknown Procter et al, unpublished
15686097 Exon 4 Missense c.734G>A p.C245Y Pathogenic yes Wolf (2005)  
15686106 Exon 4 Missense c.743T>C p.I248IT Suspected pathogenic unknown Procter et al, unpublished
15686118 Exon 4 Missense c.755A>G p.D252G Pathogenic unknown Norrgard (1999)  
15686120 Exon 4 Missense c.757C>T p.P253S Pathogenic yes Wolf (2005)  
15686121 Exon 4 Missense c.758C>T p.P253L Suspected pathogenic unknown Procter et al, unpublished
15686127 Exon 4 Missense c.764T>C P.I255T Pathogenic unknown Ohlsson (2010)  
15686133 Exon 4 Missense c.770T>A p.V257D Uncertain unknown Procter et al, unpublished
15686146 Exon 4 Nonsense c.783C>G p.Y261X Pathogenic unknown Procter et al, unpublished
15686157 Exon 4 Missense c.794A>T p.H265L Pathogenic yes Wolf (2002)  
15686157;15686296 Exon 4 Missense;Missense c.794A>T;933T>G p.H265L;S311R Pathogenic yes Iqbal (2010)
15686177 Exon 4 Missense c.814T>G p.W272G Suspected pathogenic unknown Procter et al, unpublished
15686195 Exon 4 Missense c.832C>G p.L278V Pathogenic yes Laszlo (2003)  
15686196 Exon 4 Missense c.833T>C p.L278P Pathogenic yes Pomponio (1997a)  
15686199 Exon 4 Missense c.836T>G p.L279W Pathogenic unknown Muhl (2001)  
15686219 Exon 4 Missense c.856A>G p.K286E Uncertain unknown Procter et al, unpublished
15686243 Exon 4 Missense c.880A>G p.I294V Uncertain unknown Procter et al, unpublished
15686250 Exon 4 Missense c.887T>G p.V296G Pathogenic yes Wolf (2002)  
15686258 Exon 4 Missense c.895G>C p.A299P Uncertain unknown Procter et al, unpublished
15686259 Exon 4 Missense c.896C>T p.A299V Pathogenic unknown Pico and Couce (1999)  
15686261 Exon 4 Missense c.898A>C p.N300H Pathogenic no Li (2014)
15686292 Exon 4 Missense c.929G>A p.G310E Pathogenic unknown Pomponio (2000a)  
15686295 Exon 4 Missense c.932G>A p.S311N Pathogenic unknown Norrgard (1999)  
15686296 Exon 4 Deletion c.933delT p.S311fs Pathogenic yes Pomponio (1997a)  
15686296 Exon 4 Missense c.933T>G p.S311R Pathogenic yes Iqbal (2010)
15686297 Exon 4 Missense c.934G>A p.G312S Pathogenic yes Wolf (2002)  
15686298 Exon 4 Missense c.935G>A p.G312D Pathogenic yes Pomponio (1997a)  
15686331 Exon 4 Missense c.968A>G p.H323R Pathogenic unknown Swango (1998)  
15686364 Exon 4 Missense c.1001T>A p.I334N Suspected pathogenic unknown Procter et al, unpublished
15686409 Exon 4 Missense c.1046A>C p.N349T Uncertain unknown Procter et al, unpublished
15686412 Exon 4 Deletion c.1049del p.A350fs Pathogenic yes Wolf (2002)  
15686415 Exon 4 Deletion c.1052del p.T351fs Pathogenic yes Wolf (2002)  
15686459 Exon 4 Missense c.1096T>C p.S366P Pathogenic yes Wolf (1998)  
15686459 Exon 4 Duplication c.1096-1097dupTC p.S366fs Pathogenic unknown Procter et al, unpublished
15686469 Exon 4 Missense c.1106C>T p.P369L Pathogenic yes Wolf (2002)  
15686489 Exon 4 Nonsense c.1126C>T p.Q376X Pathogenic unknown Procter et al, unpublished
15686520 Exon 4 Nonsense c.1157G>A p.W386X Pathogenic unknown Wolf (2005)  
15686521 Exon 4 Nonsense c.1158G>A p.W386X Pathogenic unknown Norrgard (1999)  
15686534 Exon 4 Missense c.1171C>T p.P391S Benign unknown Hymes (2001)  
15686534;15686697 Exon 4; Exon 4 Missense;Missense c.1171C>T;1334G>T p.P391S;G445V Pathogenic yes Wolf (2005)
15686554 Exon 4 Deletion c.1191_1192del p.E397fs Pathogenic unknown Wolf (2002)  
15686568 Exon 4 Missense c.1205A>G p.N402S Pathogenic unknown Ohlsson (2010)  
15686570;15686693 Exon 4; Exon 4 Missense;Missense c.1207T>G;1330G>C p.F403V;D444H Pathogenic unknown Norrgard (1999)
15686574 Exon 4 Missense c.1211C>T p.T404I Pathogenic yes Funghini (2002)  
15686577 Exon 4 Missense c.1214T>C p.L405P Pathogenic unknown Ohlsson (2010)  
15686590 Exon 4 Indel c.1227_1241delins11 p.W409fs Pathogenic unknown Norrgard (1999)  
15686600 Exon 4 Missense c.1237G>A p.G413S Pathogenic yes Monaghan and Wolf, unpublished  
15686602 Exon 4 Deletion c.1239del p.G413fs Pathogenic unknown Wolf (2002)  
15686602 Exon 4 Deletion c.1239_1250del p.Y414-V417del Pathogenic unknown Wolf (2002)  
15686603 Exon 4 Deletion c.1240_1251del p.Y414-V417del Pathogenic yes Pomponio (1997a)  
15686604 Exon 4 Deletion c.1241_1252del12bp p.Y414fs Pathogenic unknown Procter et al, unpublished  
15686612 Exon 4 Missense c.1249G>T p.V417F Pathogenic unknown Sarafoglou (2009)  
15686615 Exon 4 Missense c.1252T>C p.C418R Suspected pathogenic unknown Procter et al, unpublished
15686616 Exon 4 Missense c.1253G>C p.C418S Pathogenic yes Laszlo (2003)  
15686627 Exon 4 Duplication c.1264dup p.G421fs Pathogenic yes Iqbal (2010)  
15686630 Exon 4 Missense c.1267T>C p.C423R Pathogenic yes Pomponio (1997a)  
15686631 Exon 4 Missense c.1268G>C p.C423W Pathogenic unknown Muhl (2001)  
15686634 Exon 4 Missense c.1271G>A p.C424Y Pathogenic unknown Wolf (2005)  
15686634 Exon 4 Missense c.1271G>C p.C424S Pathogenic unknown Wolf (2005)  
15686638 Exon 4 Nonsense c.1275T>G p.Y425X Pathogenic unknown Iqbal (2010)  
15686645 Exon 4 Missense c.1282T>A p.Y428N Suspected pathogenic yes Procter et al, unpublished
15686647 Exon 4 Nonsense c.1284C>A p.Y428X Pathogenic yes Wang (2009)  
15686647;15686852 Exon 4;Exon 4 Silent;Missense c.1284C>T;1489C>T p.Y428Y;P497S Pathogenic unknown Wolf (2005)
15686676 Exon 4 Missense c.1313A>G p.Y438C Pathogenic yes Wolf (2002)  
15686677 Exon 4 Nonsense c.1314T>A p.Y438X Pathogenic unknown Neto (2004)  
15686693 Exon 4 Missense c.1330G>C p.D444H Pathogenic yes Swango (1998)  
15686696 Exon 4 Missense c.1333G>A p.G445R Pathogenic unknown Ohlsson (2010)  
15686697 Exon 4 Missense c.1334G>T p.G445V Pathogenic yes Pomponio (1997a)  
15686697 Exon 4 Missense c.1334G>A p.G445E Suspected pathogenic unknown Procter et al, unpublished
15686702 Exon 4 Missense c.1339C>T p.H447Y Pathogenic yes Chedrawi AK (2008)  
15686715 Exon 4 Missense c.1352G>A p.G451D Pathogenic unknown Swango (1998)
15686715 Exon 4 Deletion c.1352_1353delGC p.G451fs Suspected pathogenic unknown Procter et al, unpublished
15686724 Exon 4 Missense c.1361A>G p.Y454C Pathogenic unknown Wolf (2005)
15686731 Exon 4 Missense c.1368A>C p.Q456H Pathogenic yes Norrgard (1999)  
15686732 Exon 4 Missense c.1369G>A p.V457M Pathogenic yes Pomponio (1997a)  
15686735 Exon 4 Insertion c.1372_1373insT p.C458fs Pathogenic no Li (2014)
15686747 Exon 4 Deletion c.1384del p.V461fs Pathogenic yes Wang (2009)  
15686751 Exon 4 Missense c.1388G>A p.C463Y Pathogenic yes Wolf (2002)  
15686757 Exon 4 Indel c.1394dupG p.L466fs Pathogenic yes Couce (2011)  
15686776 Exon 4 Slient c.1413T>C p.C471C Benign no Pomponio (1998)  
15686795 Exon 4 Missense c.1432G>C p.A478P Pathogenic unknown Sarafoglou (2009)  
15686795 Exon 4 Missense c.1432G>A p.A478T Suspected pathogenic unknown Procter et al, unpublished
15686818 Exon 4 Missense c.1455C>G p.H485Q Uncertain unknown Procter et al, unpublished
15686821 Exon 4 Deletion c.1458delG p.L486fs Pathogenic unknown Procter et al, unpublished
15686822 Exon 4 Missense c.1459T>C p.W487R Pathogenic yes Pomponio (2000b)  
15686822 Exon 4 Deletion c.1459delT p.W487fs Uncertain unknown Procter et al, unpublished
15686826 Exon 4 Missense c.1463G>A p.G488D Pathogenic yes Pomponio (1997a)  
15686829 Exon 4 Missense c.1466A>C p.N489T Pathogenic no Pomponio (1998)  
15686844 Exon 4 Missense c.1481A>G p.Y494C Uncertain unknown Procter et al, unpublished
15686852 Exon 4 Missense c.1489C>T p.P497S Pathogenic yes Norrgard (1999)  
15686856 Exon 4 Duplication c.1493dup p.P498fs Pathogenic yes Wang (2009)  
15686874 Exon 4 Missense c.1511T>A p.M504K Pathogenic unknown Laszlo (2003)  
15686894 Exon 4 Missense c.1531G>C p.Q511E Pathogenic yes Wolf (2005)  
15686920 Exon 4 Missense c.1557T>G p.Y519X Pathogenic yes Tiar (2014)  
15686958 Exon 4 Missense c.1595C>T p.T532M Pathogenic yes Norrgard (1999)  
15686973 Exon 4 Missense c.1610G>A p.G537V Pathogenic yes Wolf (2002)  
15686975 Exon 4 Missense c.1612C>T p.R538C Pathogenic yes Pomponio (1997a)  
15686976 Exon 4 Missense c.1613G>A p.R538H Uncertain unknown Procter et al, unpublished
15686979 Exon 4 Duplication c.1616dup p.L539fs Pathogenic unknown Norrgard (1999)  
15686982 Exon 4 Missense c.1619A>G p.Y540C Pathogenic unknown Norrgard (1999)  
15686990 Exon 4 Missense c.1627G>C p.D543H Pathogenic unknown Muhl (2001)  
15686991 Exon 4 Missense c.1628A>T p.D543V Suspected pathogenic unknown Procter et al, unpublished
15686992 Exon 4 Missense c.1629C>A p.D543E Suspected pathogenic Suspected pathogenic Procter et al, unpublished