Variant position: 323 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 YILDRRGMPYGGRGDPVNVS RVISAMVNSLDDNGVLIGNWS
Mouse YILDRRGMPYGGRGDPVSVS RVVSAMVNSLDDNGVLIGNWT
Rat YILDRRGMPYGGRGDPVSVS RVVSAMVNSLDDNGVLIGNWT
Rabbit YILDRRGMPYGGRGDPVSVS RVISAMVNSLDDNGVLIGNWS
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.
Mutations of keratinocyte transglutaminase in lamellar ichthyosis.
Huber M.; Rettler I.; Bernasconi K.; Frenk E.; Lavrijsen S.P.M.; Ponec M.; Bon A.; Lautenschlager S.; Schorderet D.F.; Hohl D.;
Cited for: VARIANTS ARCI1 TYR-42 AND GLN-323; INVOLVEMENT IN ARC11;
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