Variant position: 102 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 SRGSDSRRPVSRGSGVNAAG DGTIREGMLVVNGVDLLSSRS
Mouse SRG--GRRPESRGSGVNAAG DGTIREGMLVVTGVDLLCSRS
Rat SRG--GRRPESRGSGVNAAG DGTIREGMLVVNGVDLLCSRS
Rabbit ------GRPDSRGGGVNAAG DGTIREGMLVVTGVDLLSSRS
Dog SRGSDSRRPGSRASGVNAAG DGTIREGMLVVTGVDLLSSRS
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
82 – 82 Phosphoserine
85 – 85 Phosphoserine
92 – 92 Phosphoserine
95 – 95 Phosphoserine
1 – 442 Missing. In isoform 2.
Novel mutations of the transglutaminase 1 gene in lamellar ichthyosis.
Yang J.M.; Ahn K.S.; Cho M.O.; Yoneda K.; Lee C.H.; Lee J.H.; Lee E.S.; Candi E.; Melino G.; Ahvazi B.; Steinert P.M.;
J. Invest. Dermatol. 117:214-218(2001)
Cited for: VARIANTS ARCI1 VAL-102; THR-289 AND TRP-307;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.