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Results for the Protein: P22735
57015359

TGM1_HUMAN RecName: Full=Protein-glutamine gamma-glutamyltransferase K; AltName: Full=Epidermal TGase; AltName: Full=Transglutaminase K; Short=TG(K); Short=TGK; Short=TGase K; AltName: Full=Transglutaminase-1; Short=TGase-1

Known Diseases associated with this Protein:
  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 (ARCI1)
  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION
  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT BATHING
  SUIT DISTRIBUTION
95
6
31
4
66
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Default View:

Transglut_N - pfam00868
Transglut_core - pfam01841
TGc - smart00460
Transglut_C - pfam00927


Swiss-Prot Protein: P22735
Identical to: NP_000350
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Transglut_corepfam018412e-08340460
Transglut_Cpfam009271.9e-31579683
Transglut_Cpfam009271e-29691788
TGcsmart004606.7e-46369462

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_058640Diseasep.ARG126CYSIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058643Diseasep.ARG142CYSIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_007477Diseasep.ARG143CYSIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058664Diseasep.ARG315CYSIchthyosis, congenital, autosomal recessive 1 (ARCI1)
dbSNPrs2229464 Polymorphismp.ARG607CYSN/A
Swiss-ProtVAR_058687Diseasep.ARG687CYSIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058689Diseasep.ARG764CYSIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058654Diseasep.ARG264GLNIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058660Diseasep.ARG286GLNIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_015221Diseasep.ARG323GLNIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058663Diseasep.ARG307GLYIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058641Diseasep.ARG126HISIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_007476Diseasep.ARG142HISIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_007478Diseasep.ARG143HISIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058650Diseasep.ARG225HISIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058665Diseasep.ARG315HISIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_015222Diseasep.ARG389HISIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058679Diseasep.ARG396HISIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058688Diseasep.ARG687HISIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058666Diseasep.ARG315LEUIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_007481Diseasep.ARG396LEUIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058644Diseasep.ARG142PROIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058651Diseasep.ARG225PROIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058677Diseasep.ARG389PROIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058680Diseasep.ARG396SERIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058655Diseasep.ARG264TRPIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_020920Diseasep.ARG307TRPIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058667Diseasep.ARG323TRPIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058668Diseasep.ASN330HISIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_020919Diseasep.ASN289THRIchthyosis, congenital, autosomal recessive 1 (ARCI1)
dbSNPrs2229462 Polymorphismp.ASP132ASNN/A
Swiss-ProtVAR_058684Diseasep.ASP490GLYIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_020918Diseasep.ASP102VALIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058682Diseasep.ASP430VALIchthyosis, congenital, autosomal recessive 1 (ARCI1)
dbSNPrs2228337 Polymorphismp.ASP802VALN/A
Swiss-ProtVAR_058638Diseasep.CYS53SERIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058685Diseasep.GLU520GLYIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058659Diseasep.GLU285LYSIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058646Diseasep.GLY144ARGIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058658Diseasep.GLY278ARGIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058675Diseasep.GLY382ARGIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058678Diseasep.GLY392ASPIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058639Diseasep.GLY94ASPIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058645Diseasep.GLY144GLUIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_007479Diseasep.GLY218SERIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058683Diseasep.GLY473SERIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058662Diseasep.ILE304PHEIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058652Diseasep.ILE243SERIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058648Diseasep.LEU205GLNIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058674Diseasep.LEU366PROIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058661Diseasep.PHE293VALIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058681Diseasep.PHE401VALIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058653Diseasep.PRO249LEUIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058671Diseasep.SER358ARGIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058647Diseasep.SER160CYSIchthyosis, congenital, autosomal recessive 1 (ARCI1)
dbSNPrs35926651 Polymorphismp.SER755LEUN/A
Swiss-ProtVAR_058656Diseasep.SER272PROIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058669Diseasep.SER331PROIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_015220Diseasep.SER42TYRIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058670Diseasep.TRP342ARGIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058657Diseasep.TYR276ASNIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058673Diseasep.TYR365ASPIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058642Diseasep.TYR134CYSIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058686Diseasep.TYR544CYSIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_055374Polymorphismp.VAL372ILEN/A
Swiss-ProtVAR_007480Diseasep.VAL379LEUIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058672Diseasep.VAL359METIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_058676Diseasep.VAL383METIchthyosis, congenital, autosomal recessive 1 (ARCI1)
Swiss-ProtVAR_052550Polymorphismp.VAL518METN/A
Swiss-ProtVAR_058649Diseasep.VAL209PHEIchthyosis, congenital, autosomal recessive 1 (ARCI1)
OMIM190195.0030 Diseasep.ARG126CYSICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION
OMIM190195.0004 Diseasep.ARG142CYSICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
OMIM190195.0031 Diseasep.ARG315CYSICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION
OMIM190195.0017 Diseasep.ARG286GLNICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
OMIM190195.0005 Diseasep.ARG323GLNICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
OMIM190195.0006 Diseasep.ARG141HISICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
OMIM190195.0007 Diseasep.ARG142HISICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT BATHING||SUIT DISTRIBUTION
OMIM190195.0032 Diseasep.ARG315HISICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION
OMIM190195.0011 Diseasep.ARG388HISICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
OMIM190195.0035 Diseasep.ARG396HISICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
OMIM190195.0033 Diseasep.ARG315LEUICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT BATHING||SUIT DISTRIBUTION
OMIM190195.0009 Diseasep.ARG395LEUICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
OMIM190195.0016 Diseasep.ARG142PRICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
OMIM190195.0038 Diseasep.ARG670TERICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT BATHING||SUIT DISTRIBUTION
OMIM190195.0022 Diseasep.ARG306TRPICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION
OMIM190195.0021 Diseasep.ASN288THRICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION
OMIM190195.0013 Diseasep.ASP490GLYICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
OMIM190195.0027 Diseasep.ASP101VALICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
OMIM190195.0025 Diseasep.GLN582TERICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
OMIM190195.0014 Diseasep.GLY278ARGICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
OMIM190195.0015 Diseasep.GLY392ASPICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
OMIM190195.0020 Diseasep.GLY94ASPICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
OMIM190195.0023 Diseasep.GLY217SERICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
OMIM190195.0028 Diseasep.LEU204GLNICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
OMIM190195.0019 Diseasep.SER160CYSICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
OMIM190195.0003 Diseasep.SER42TYRICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
OMIM190195.0029 Diseasep.TYR276ASNICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION
OMIM190195.0008 Diseasep.VAL378LEUICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
OMIM190195.0034 Diseasep.VAL359METICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
OMIM190195.0010 Diseasep.VAL382METICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION
OMIM190195.0018 Diseasep.VAL518METICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1



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