Variant position: 101 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 305 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 GYCGTVKRNLLLLAWYFGSL LVIFCVELACGVWTYEQELMV
Mouse GYCGTVKRNLLLLAWYFGTL LVIFCVELACGVWTYEQEVMV
Rat GYCGTVKRNLLLLAWYFGTL LVIFCVELACGVWTYEQEVMV
Bovine GYCGTVKRNLLLLAWYFGSL LVIFCVELACGVWTYEQEIMV
Chicken GYCGTVKRNLLLLVWYFGSL LVIFCVELACGVWTYEQEITV
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 – 305 Tetraspanin-12
90 – 110 Helical
83 – 83 S-palmitoyl cysteine
1 – 120 MAREDSVKCLRCLLYALNLLFWLMSISVLAVSAWMRDYLNNVLTLTAETRVEEAVILTYFPVVHPVMIAVCCFLIIVGMLGYCGTVKRNLLLLAWYFGSLLVIFCVELACGVWTYEQELM -> MAHKLLL. In isoform 2.
83 – 83 C -> S. Impairs interaction with ADAM10; when associated with S-9 and S-12.
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.
Poulter J.A.; Ali M.; Gilmour D.F.; Rice A.; Kondo H.; Hayashi K.; Mackey D.A.; Kearns L.S.; Ruddle J.B.; Craig J.E.; Pierce E.A.; Downey L.M.; Mohamed M.D.; Markham A.F.; Inglehearn C.F.; Toomes C.;
Am. J. Hum. Genet. 86:248-253(2010)
Cited for: VARIANTS EVR5 HIS-101 AND ARG-210;
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.