Variant position: 187 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 435 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 QYFLYGFELKPLYRCDRWPC PNTVDCFISRPTEKTIFIIFM
Mouse QYFLYGFQLQPLYRCDRWPC PNTVDCFISRPTEKTIFVIFM
Rat QYFLYGFQLQPLYRCDRWPC PNTVDCFISRPTEKTIFVIFM
Bovine QYFLYGFQLKPLYRCDRWPC PNTVDCFISRPTEKTIFILFM
Sheep QYFLYGFQLKPLYRCDRWPC PNTVDCFISRPTEKTIFILFM
Chicken QYFLYGFELKPVYQCSRPPC PHTVDCFISRPTEKTIFIIFM
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 – 435 Gap junction alpha-3 protein
174 – 201 Extracellular
54 – 192
Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3).
Rees M.I.; Watts P.; Fenton I.; Clarke A.; Snell R.G.; Owen M.J.; Gray J.;
Hum. Genet. 106:206-209(2000)
Cited for: VARIANT CTRCT14 LEU-187;
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