Variant position: 42 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 270 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 RIWLSVVFVFRVLVYVVAAE RVWGDEQKDFDCNTKQPGCTN
Mouse RIWLSVVFVFRVLVYVVAAE RVWGDEQKDFDCNTRQPGCTN
Rat RIWLSVVFVFRVLVYVVAAE RVWGDEQKDFDCNTRQPGCTN
Bovine RIWLSVVFVFRVLVYVVAAE RVWGDEQKDFDCNTKQPGCTN
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 – 270 Gap junction beta-3 protein
41 – 75 Extracellular
Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis.
Wilgoss A.; Leigh I.M.; Barnes M.R.; Dopping-Hepenstal P.; Eady R.A.J.; Walter J.M.; Kennedy C.T.; Kelsell D.P.;
J. Invest. Dermatol. 113:1119-1122(1999)
Cited for: VARIANT EKVP1 PRO-42;
The spectrum of mutations in erythrokeratodermias -- novel and de novo mutations in GJB3.
Richard G.; Brown N.; Smith L.E.; Terrinoni A.; Melino G.; Mackie R.M.; Bale S.J.; Uitto J.;
Hum. Genet. 106:321-329(2000)
Cited for: VARIANTS EKVP1 PRO-42 AND LEU-137;
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.