Variant position: 198 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 433 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 LPLYRCSRWPCPNVVDCFVS RPTEKTIFILFMLSVASVSLF
Mouse LPLYRCSRWPCPNVVDCFVS RPTEKTIFILFMLSVAFVSLF
Rat LPLYRCSRWPCPNVVDCFVS RPTEKTIFILFMLSVAFVSLF
Sheep LPLYRCSRWPCPNVVDCFVS RPTEKTIFILFMLSVASVSLF
Chicken LPLYRCGRWPCPNLVDCFVS RPTEKTIFIMFMLVVAAVSLF
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
2 – 433 Gap junction alpha-8 protein
176 – 203 Extracellular
Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.
Devi R.R.; Vijayalakshmi P.;
Mol. Vis. 12:190-195(2006)
Cited for: VARIANTS CTRCT1 GLU-44 AND GLN-198;
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