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.


168 variants found

Genomic Position Location Mutation Type Nucleotide Change Protein Change Classification Symptomatic Patient References Comments
15651856 5'UTR Silent c.1-34C>T Benign unknown Procter et al, unpublished
15651988 Exon 2 Indel c.98_104delinsTCC p.C33fs Pathogenic yes Pomponio (1997a)  
15651988;15652102 Exon 2
Exon 2
Indel
Missense
c.98_104delinsTCC
c.212T>C
p.C33fs
p.L71P
Pathogenic unknown Wolf (2005)
15651989 Exon 2 Slient c.99C>T p.C33C Benign no Wolf (2005)  
15651990 Exon 2 Missense c.100G>A p.G34S Pathogenic yes Pomponio (1997c)
15652018 Exon 2 Missense c.128A>G p.H43R Uncertain unknown Procter et al, unpublished
15652023 Exon 2 Missense c.133G>A p.G45R Uncertain yes Neto (2004)  
15652023;15661232 Exon 2
Exon 4
Missense
Missense
c.133G>A
c.865G>C
p.G45R
p.A289P
Pathogenic unknown Norrgard (1999)
15652023;15661638 Exon 2
Exon 4
Missense
Missense
c.133G>A
c.1271G>C
p.G45R
p.C424S
Pathogenic unknown Wolf (2005)
15652026 Exon 2 Nonsense c.136G>T p.E46X Pathogenic unknown Milankovics (2007)  
15652049;15652050 Exon 2 Missense
Nonsense
c.159C>A
c.160G>T
p.H53Q
p.E54X
Pathogenic yes Wolf (2005)
15652061 Exon 2 Nonsense c.171T>G p.Y57X Pathogenic yes Pomponio (2000a)  
15652074 Exon 2 Missense c.184G>T p.V62L Pathogenic unknown Norrgard (1999)  
15652074 Exon 2 Missense c.184G>A p.V62M Pathogenic yes Muhl (2001)  
15652080 Exon 2 Missense c.190G>A p.E64K Pathogenic yes Wolf (2002)  
15652082 Exon 2 Missense c.192G>C p.E64D Uncertain unknown Procter et al, unpublished
15652084 Exon 2 Insertion c.194ins4 p.H65fs Pathogenic yes Sivri (2007)  
15652084 Exon 2 Missense c.194A>G p.H65R Pathogenic unknown Sarafoglou (2009)  
15652101 Exon 2 Slient c.211C>T p.L71L Benign unknown Ohlsson (2010)  
15652102 Exon 2 Missense c.212T>C p.L71P Pathogenic unknown Wolf (2005)  
15652102;15652126 Exon 2
Exon 2
Missense
Missense
c.212T>C
c.236G>A
p.L71P
p.R79H
Pathogenic yes Laszlo (2003)
15652124 Exon 2 Slient c.234C>T p.S78S Benign unknown Hymes (2001)  
15652125 Exon 2 Missense c.235C>T p.R79C Pathogenic yes Pomponio (2000a)  
15652125;15660837 Exon 2
Exon 4
Missense
Missense
c.235C>T
c.470G>A
p.R79C
p.R157H
Pathogenic yes Baykal (2005)
15652125;15661728 Exon 2
Exon 4
Missense
Missense
c.235C>T
c.1361A>G
p.R79C
p.Y454C
Pathogenic yes Wolf (2005)
15652126 Exon 2 Missense c.236G>A p.R79H Pathogenic unknown Neto (2004)  
15652135 Exon 2 Missense c.245C>A p.A82D Pathogenic unknown Laszlo (2003)  
15652135 Exon 2 Missense c.245C>T p.A82V Suspected pathogenic unknown Procter et al, unpublished
15652136 Exon 2 Deletion c.246_254del p.L83-L85del Pathogenic yes Pomponio (1997a)  
15652138 Exon 2 Missense c.248T>C p.L83S Pathogenic unknown Ohlsson (2010)  
15652152 Exon 2 Nonsense c.262C>T p.Q88X Pathogenic yes Pomponio (1997a)  
15652168 Exon 2 Missense c.278A>G p.Y93C Pathogenic yes Wolf (2002)  
15652173;15661697 Exon 2
Exon 4
Nonsense
Missense
c.283C>T
c.1330G>C
p.Q95X
p.D444H
Pathogenic yes Wolf (2005)
15652188 Exon 2 Missense c.298G>A p.A100T Pathogenic yes Wolf (2002)  
15658419 Exon 3 Missense c.310G>T p.D104Y Pathogenic unknown Norrgard (1999)  
15658435 Exon 3 Missense c.326T>G p.V109G Pathogenic unknown Muhl (2001)  
15658443 Exon 3 Missense c.334G>C p.E112Q Pathogenic yes Pomponio (1997a)  
15658443 Exon 3 Missense c.334G>A p.E112K Pathogenic yes Laszlo (2003)  
15658450 Exon 3 Missense c.341G>T p.G114V Pathogenic yes Wolf (2005)  
15658465 Exon 3 Missense c.356A>G p.N119S Suspected pathogenic unknown Procter et al, unpublished
15658473 Exon 3 Missense c.364A>G p.R122G Pathogenic unknown Norrgard (1999)  
15658491 Exon 3 Missense c.382T>G p.F128V Pathogenic unknown Swango (1998)  
15658502 Exon 3 Deletion c.393del p.F131fs Pathogenic yes Wolf (2002)  
15658516 Exon 3 Frameshift c.407_408insA p.Q136fs Pathogenic Onay H et al, unpublished
15658533 Exon 3 Missense c.424C>A p.P142T Pathogenic yes Sarafoglou (2009)  
15658552 Exon 3 Missense c.443G>A p.R148H Pathogenic unknown Ohlsson (2010)  
15658553 Exon 3 Slient c.444C>A p.A148A Benign Pico and Couce (1999)  
15658554 Exon 3 Missense c.445T>C p.F149L Pathogenic unknown Norrgard (1999)  
15658563 Exon 4 Missense c.454A>C p.T152P Pathogenic unknown Milankovics (2007)  
15658568 Exon 4 Slice Site c.459G>A p.E153E Pathogenic yes Pomponio (1997a)  
15658569 Exon 4 Insertion c.460-7_8 insT Benign unknown Procter et al, unpublished
15660833 Exon 4 Nonsense c.466C>T p.Q156X Pathogenic yes Pomponio (2000b)  
15660836 Exon 4 Missense c.469C>T p.R157C Pathogenic unknown Milankovics (2007)  
15660837 Exon 4 Missense c.470G>A p.R157H Pathogenic yes Pomponio (1997a)  
15660837;15661697 Exon 4
Exon 4
Missense
Missense
c.470G>A
c.1330G>C
p.R157H
p.D444H
Pathogenic unknown Norrgard (1999)
15660852 Exon 4 Missense c.485C>T p.A162V Pathogenic unknown Norrgard (1999)  
15660857 Exon 4 Deletion c.490_491del p.R164fs Pathogenic yes Pomponio (2000b)  
15660878;15661697 Exon 4
Exon 4
Missense
Missense
c.511G>A
c.1330G>C
p.A171T
p.D444H
Pathogenic yes Norrgard (1999)
15660882 Exon 4 Missense c.515A>G p.N172S Pathogenic unknown Muhl (2001)  
15660885 Exon 4 Missense c.518T>G p.L173R Pathogenic yes Monaghan and Wolf, unpublished  
15660895 Exon 4 Missense c.528G>T p.K176N Pathogenic unknown Norrgard (1999)  
15660911 Exon 4 Deletion c.544del p.S182fs Pathogenic yes Pomponio (2000b)  
15660924 Exon 4 Missense c.557G>A p.C186Y Pathogenic unknown Pomponio (2000a)  
15660926 Exon 4 Missense c.559C>T p.P187S Pathogenic unknown Iqbal (2010)  
15660950 Exon 4 Missense c.583A>G p.N195D Pathogenic yes Pomponio (1997a)  
15660951 Exon 4 Missense c.584A>G p.N195S Pathogenic unknown Milankovics (2007)  
15660954 Exon 4 Missense c.587C>G p.T196R Pathogenic yes Pomponio (2000a)  
15660961 Exon 4 Deletion c.594_596del p.V199del Pathogenic yes Pomponio (1997a)  
15660961 Exon 4 Deletion c.594del p.V198fs Pathogenic unknown Funghini (2002)  
15660962 Exon 4 Missense c.595G>A p.V199M Pathogenic unknown Wolf (2002)  
15660972 Exon 4 Missense c.605A>T p.N202I Pathogenic unknown Ohlsson (2010)  
15660996 Exon 4 Missense c.629A>G p.Y210C Pathogenic yes Pomponio (1997a)  
15660998 Exon 4 Missense c.631C>T p.R211C Pathogenic unknown Norrgard (1999)  
15660999 Exon 4 Missense c.632G>A p.R211H Uncertain unknown Procter et al, unpublished
15661008 Exon 4 Missense
Missense
c.641A>G p.N214S Pathogenic yes Wolf (2005)
15661008;15661697 Exon 4
Exon 4
Missense
Missense
c.641A>G
c.1330G>C
p.N214S
p.D444H
Pathogenic yes Wolf (2005)
15661010 Exon 4 Missense c.643C>T p.L215F Pathogenic yes Pomponio (1997a)  
15661012 Exon 4 Slient c.645C>T p.L215L Benign unknown Hymes (2001)  
15661019 Exon 4 Missense c.652G>C p.E218Q Pathogenic yes Laszlo (2003)  
15661021 Exon 4 Missense c.654G>C p.E218D Pathogenic unknown Wolf (2005)  
15661031 Exon 4 Missense c.664G>C p.D222H Suspected pathogenic unknown Procter et al, unpublished
15661031 Exon 4 Missense c.758C>T p.P253L Suspected pathogenic unknown Procter et al, unpublished
15661031 Exon 4 Missense c.1001T>A p.I334N Suspected pathogenic unknown Procter et al, unpublished
15661031 Exon 4 Missense c.1046A>C p.N349T Uncertain unknown Procter et al, unpublished
15661049 Exon 4 Missense c.682G>T p.D228Y Pathogenic unknown Swango (1998)  
15661076 Exon 4 Missense c.709G>A p.A237T Uncertain unknown Procter et al, unpublished
15661101 Exon 4 Missense c.734G>A p.C245Y Pathogenic yes Wolf (2005)  
15661110 Exon 4 Missense c.743T>C p.I248IT Suspected pathogenic unknown Procter et al, unpublished
15661122 Exon 4 Missense c.755A>G p.D252G Pathogenic unknown Norrgard (1999)  
15661124 Exon 4 Missense c.757C>T p.P253S Pathogenic yes Wolf (2005)  
15661131 Exon 4 Missense c.764T>C P.I255T Pathogenic unknown Ohlsson (2010)  
15661161 Exon 4 Missense c.794A>T p.H265L Pathogenic yes Wolf (2002)  
15661161;15661300 Exon 4 Missense
Missense
c.794A>T
c.933T>G
p.H265L
p.S311R
Pathogenic yes Iqbal (2010)
15661181 Exon 4 Missense c.814T>G p.W272G Suspected pathogenic unknown Procter et al, unpublished
15661199 Exon 4 Missense c.832C>G p.L278V Pathogenic yes Laszlo (2003)  
15661200 Exon 4 Missense c.833T>C p.L278P Pathogenic yes Pomponio (1997a)  
15661203 Exon 4 Missense c.836T>G p.L279W Pathogenic unknown Muhl (2001)  
15661247 Exon 4 Missense c.880A>G p.I294V Uncertain unknown Procter et al, unpublished
15661254 Exon 4 Missense c.887T>G p.V296G Pathogenic yes Wolf (2002)  
15661263 Exon 4 Missense c.896C>T p.A299V Pathogenic Pico and Couce (1999)  
15661296 Exon 4 Missense c.929G>A p.G310E Pathogenic unknown Pomponio (2000a)  
15661299 Exon 4 Missense c.932G>A p.S311N Pathogenic unknown Norrgard (1999)  
15661300 Exon 4 Deletion c.933delT p.S311fs Pathogenic yes Pomponio (1997a)  
15661300 Exon 4 Missense c.933T>G p.S311R Pathogenic yes Iqbal (2010)
15661301 Exon 4 Missense c.934G>A p.G312S Pathogenic yes Wolf (2002)  
15661302 Exon 4 Missense c.935G>A p.G312D Pathogenic yes Pomponio (1997a)  
15661335 Exon 4 Missense c.968A>G p.H323R Pathogenic unknown Swango (1998)  
15661416 Exon 4 Deletion c.1049del p.A350fs Pathogenic yes Wolf (2002)  
15661419 Exon 4 Deletion c.1052del Frameshift Pathogenic yes Wolf (2002)  
15661463 Exon 4 Missense c.1096T>C p.S366P Pathogenic yes Wolf (1998)  
15661473 Exon 4 Missense c.1106C>T p.P369L Pathogenic yes Wolf (2002)  
15661524 Exon 4 Nonsense c.1157G>A p.W386X Pathogenic unknown Wolf (2005)  
15661525 Exon 4 Nonsense c.1158G>A p.W386X Pathogenic unknown Norrgard (1999)  
15661538 Exon 4 Missense c.1171C>T p.P391S Benign unknown Hymes (2001)  
15661538;15661701 Exon 4
Exon 4
Missense
Missense
c.1171C>T
c.1334G>T
p.P391S
p.G445V
Pathogenic yes Wolf (2005)
15661558 Exon 4 Deletion c.1191_1192del p.E397fs Pathogenic unknown Wolf (2002)  
15661572 Exon 4 Missense c.1205A>G p.N402S Pathogenic unknown Ohlsson (2010)  
15661574;15661697 Exon 4
Exon 4
Missense
Missense
c.1207T>G
c.1330G>C
p.F403V
p.D444H
Pathogenic unknown Norrgard (1999)
15661578 Exon 4 Missense c.1211C>T p.T404I Pathogenic yes Funghini (2002)  
15661581 Exon 4 Missense c.1214T>C p.L405P Pathogenic unknown Ohlsson (2010)  
15661594 Exon 4 Indel c.1227_1241delins11 p.W409fs Pathogenic unknown Norrgard (1999)  
15661604 Exon 4 Missense c.1237G>A p.G413S Pathogenic yes Monaghan and Wolf, unpublished  
15661606 Exon 4 Deletion c.1239del p.G413fs Pathogenic unknown Wolf (2002)  
15661606 Exon 4 Deletion c.1239_1250del p.Y414-V417del Pathogenic unknown Wolf (2002)  
15661607 Exon 4 Deletion c.1240_1251del p.Y414-V417del Pathogenic yes Pomponio (1997a)  
15661616 Exon 4 Missense c.1249G>T p.V417F Pathogenic unknown Sarafoglou (2009)  
15661619 Exon 4 Missense c.1252T>C p.C418R Suspected pathogenic unknown Procter et al, unpublished
15661620 Exon 4 Missense c.1253G>C p.C418S Pathogenic yes Laszlo (2003)  
15661631 Exon 4 Duplication c.1264dup p.G421fs Pathogenic yes Iqbal (2010)  
15661634 Exon 4 Missense c.1267T>C p.C423R Pathogenic yes Pomponio (1997a)  
15661635 Exon 4 Missense c.1268G>C p.C423W Pathogenic unknown Muhl (2001)  
15661638 Exon 4 Missense c.1271G>A p.C424Y Pathogenic unknown Wolf (2005)  
15661638 Exon 4 Missense c.1271G>C p.C424S Pathogenic unknown Wolf (2005)  
15661642 Exon 4 Nonsense c.1275T>G p.Y425X Pathogenic unknown Iqbal (2010)  
15661651 Exon 4 Nonsense c.1284C>A p.Y428X Pathogenic yes Wang (2009)  
15661651;15661856 Exon 4
Exon 4
Silent
Missense
c.1284C>T
c.1489C>T
p.Y428Y
p.P497S
Pathogenic unknown Wolf (2005)
15661680 Exon 4 Missense c.1313A>G p.Y438C Pathogenic yes Wolf (2002)  
15661681 Exon 4 Nonsense c.1314T>A p.Y438X Pathogenic unknown Neto (2004)  
15661697 Exon 4 Missense c.1330G>C p.D444H Pathogenic yes Swango (1998)  
15661700 Exon 4 Missense c.1333G>A p.G445R Pathogenic unknown Ohlsson (2010)  
15661701 Exon 4 Missense c.1334G>T p.G445V Pathogenic yes Pomponio (1997a)  
15661706 Exon 4 Missense c.1339C>T p.H447Y Pathogenic yes Chedrawi AK (2008)  
15661719 Exon 4 Missense c.1352G>A p.G451D Pathogenic unknown Swango (1998)
15661735 Exon 4 Missense c.1368A>C p.Q456H Pathogenic yes Norrgard (1999)  
15661736 Exon 4 Missense c.1369G>A p.V457M Pathogenic yes Pomponio (1997a)  
15661751 Exon 4 Deletion c.1384del p.V461fs Pathogenic yes Wang (2009)  
15661755 Exon 4 Missense c.1388G>A p.C463Y Pathogenic yes Wolf (2002)  
15661761 Exon 4 Indel c.1394dupG p.L466fs Pathogenic yes Couce (2011)  
15661780 Exon 4 Slient c.1413T>C p.C471C Benign no Pomponio (1998)  
15661799 Exon 4 Missense c.1432G>C p.A478P Pathogenic unknown Sarafoglou (2009)  
15661799 Exon 4 Missense c.1432G>A p.A478T Suspected pathogenic unknown Procter et al, unpublished
15661812 Exon 4 Missense c.1455C>G p.H485Q Uncertain unknown Procter et al, unpublished
15661826 Exon 4 Missense c.1459T>C p.W487R Pathogenic yes Pomponio (2000b)  
15661826 Exon 4 Deletion c.1459delT p.W487fs Uncertain unknown Procter et al, unpublished
15661830 Exon 4 Missense c.1463G>A p.G488D Pathogenic yes Pomponio (1997a)  
15661833 Exon 4 Missense c.1466A>C p.N489T Pathogenic no Pomponio (1998)  
15661856 Exon 4 Missense c.1489C>T p.P497S Pathogenic yes Norrgard (1999)  
15661860 Exon 4 Duplication c.1493dup p.P498fs Pathogenic yes Wang (2009)  
15661878 Exon 4 Missense c.1511T>A p.M504K Pathogenic unknown Laszlo (2003)  
15661898 Exon 4 Missense c.1531G>C p.Q511E Pathogenic yes Wolf (2005)  
15661962 Exon 4 Missense c.1595C>T p.T532M Pathogenic yes Norrgard (1999)  
15661977 Exon 4 Missense c.1610G>A p.G537V Pathogenic yes Wolf (2002)  
15661979 Exon 4 Missense c.1612C>T p.R538C Pathogenic yes Pomponio (1997a)  
15661980 Exon 4 Missense c.1613G>A p.R538H Uncertain unknown Procter et al, unpublished
15661983 Exon 4 Duplication c.1616dup p.L539fs Pathogenic unknown Norrgard (1999)  
15661986 Exon 4 Missense c.1619A>G p.Y540C Pathogenic unknown Norrgard (1999)  
15661994 Exon 4 Missense c.1627G>C p.D543H Pathogenic unknown Muhl (2001)  
15661996 Exon 4 Missense c.1629C>A p.D543E Suspected pathogenic Suspected pathogenic Procter et al, unpublished