Variant position: 143 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 817 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human DQNRREHHTDEYEYDELIVR RGQPFHMLLLLSRTYESSDRI
Mouse DQNRREHHTDEFEYDELIVR RGQPFHMILFLNREYESSDRI
Rat DQNRREHHTDEFEYDELILR RGQPFHIILFLNREYESSDRI
Rabbit DQNRREHHTDEFEYEELIVR RGQPFHLVLFLSRPYESSDRI
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 817 Protein-glutamine gamma-glutamyltransferase K
1 – 442 Missing. In isoform 2.
Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population.
Laiho E.; Ignatius J.; Mikkola H.; Yee V.C.; Teller D.C.; Niemi K.-M.; Saarialho-Kere U.; Kere J.; Palotie A.;
Am. J. Hum. Genet. 61:529-538(1997)
Cited for: VARIANTS ARCI1 HIS-142; CYS-143; SER-218; LEU-379 AND LEU-396;
Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosis.
Zhang S.Q.; Li C.X.; Gao X.Q.; Qiu W.Y.; Chen Q.; Li X.M.; Zhou X.; Tian X.; Tang Z.P.; Zhao T.; Zhang F.; Zhang X.B.;
Int. J. Dermatol. 55:201-207(2016)
Cited for: VARIANTS ARCI1 CYS-143 AND PHE-212; CHARACTERIZATION OF VARIANTS ARCI1 CYS-143 AND PHE-212; FUNCTION;
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