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Results for the Protein: P21549
134855
189

SPYA_HUMAN RecName: Full=Serine--pyruvate aminotransferase; Short=SPT; AltName: Full=Alanine--glyoxylate aminotransferase; Short=AGT

Known Diseases associated with this Protein:
  HYPEROXALURIA PRIMARY 1 (HP1)
  HYPEROXALURIA, PRIMARY, TYPE I
47
10
13
6
38
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

csdA - COG0520
COG0075 - COG0075
Aminotran_5 - pfam00266
AGAT_like - cd06451
AAT_I - cd01494
SufS_like - cd06453


Swiss-Prot Protein: P21549
Identical to: NP_000021
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
csdACOG05203.6e-074389
COG0075COG00751.2e-11117392
AGAT_likecd064516.3e-21324385
AAT_Icd014946e-4656223
SufS_likecd064530.0003577380
Aminotran_5pfam002662.9e-7923376

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_060550Diseasep.ALA112ASPHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_048237Polymorphismp.ALA295THRN/A
dbSNPrs117195882 Polymorphismp.ALA186VALN/A
dbSNPrs73106685 Polymorphismp.ALA280VALN/A
Swiss-ProtVAR_008879Diseasep.ARG233CYSHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_060567Diseasep.ARG289CYSHyperoxaluria primary 1 (HP1)
dbSNPrs34664134 Polymorphismp.ARG197GLNN/A
Swiss-ProtVAR_008880Diseasep.ARG233HISHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_060560Diseasep.ARG233LEUHyperoxaluria primary 1 (HP1)
dbSNPrs34885252 Polymorphismp.ASN22SERN/A
Swiss-ProtVAR_010973Diseasep.ASP183ASNHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_060558Diseasep.ASP201GLUHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_060561Diseasep.ASP243HISHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_060562Diseasep.CYS253ARGHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_060555Diseasep.CYS173TYRHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_010971Diseasep.GLY116ARGHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_010972Diseasep.GLY156ARGHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_060554Diseasep.GLY161ARGHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_000590Diseasep.GLY170ARGHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_060556Diseasep.GLY190ARGHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_000588Diseasep.GLY41ARGHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_060548Diseasep.GLY82ARGHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_060572Diseasep.GLY350ASPHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_008878Diseasep.GLY82GLUHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_010969Diseasep.GLY41VALHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_060563Diseasep.ILE279METHyperoxaluria primary 1 (HP1)
dbSNPrs4426527 Polymorphismp.ILE340METN/A
Swiss-ProtVAR_008881Diseasep.ILE244THRHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_060564Polymorphismp.ILE279THRN/A
Swiss-ProtVAR_060569Diseasep.LEU298PROHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_060552Diseasep.LEU153VALHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_060557Diseasep.MET195ARGHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_000589Diseasep.PHE152ILEHyperoxaluria primary 1 (HP1)
dbSNPrs34116584 Polymorphismp.PRO11HISN/A
Swiss-ProtVAR_000587Polymorphismp.PRO11LEUN/A
Swiss-ProtVAR_060553Diseasep.SER158LEUHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_060559Diseasep.SER218LEUHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_000591Diseasep.SER187PHEHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_000592Diseasep.SER205PROHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_060566Diseasep.SER287THRHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_060547Diseasep.THR9ASNHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_060549Diseasep.TRP108ARGHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_060571Diseasep.VAL336ASPHyperoxaluria primary 1 (HP1)
Swiss-ProtVAR_060570Polymorphismp.VAL326ILEN/A
OMIM604285.0008 Diseasep.ARG233CYSHYPEROXALURIA, PRIMARY, TYPE I
OMIM604285.0009 Diseasep.ARG233HISHYPEROXALURIA, PRIMARY, TYPE I
OMIM604285.0012 Diseasep.GLY158ARGHYPEROXALURIA, PRIMARY, TYPE I
OMIM604285.0013 Diseasep.GLY170ARGHYPEROXALURIA, PRIMARY, TYPE I
OMIM604285.0005 Diseasep.GLY41ARGHYPEROXALURIA, PRIMARY, TYPE I
OMIM604285.0004 Diseasep.GLY82GLNHYPEROXALURIA, PRIMARY, TYPE I
OMIM604285.0014 Diseasep.ILE340METHYPEROXALURIA, PRIMARY, TYPE I
OMIM604285.0007 Diseasep.ILE244THRHYPEROXALURIA, PRIMARY, TYPE I
OMIM604285.0006 Diseasep.PHE152ILEHYPEROXALURIA, PRIMARY, TYPE I
OMIM604285.0002 Diseasep.PRO11LEUHYPEROXALURIA, PRIMARY, TYPE I
OMIM604285.0001 Diseasep.SER205PROHYPEROXALURIA, PRIMARY, TYPE I
OMIM604285.0010 Diseasep.TRP246TERHYPEROXALURIA, PRIMARY, TYPE I
OMIM604285.0003 Diseasep.TYR66TERHYPEROXALURIA, PRIMARY, TYPE I



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