Variant position: 261 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 266 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 QKREASNCFAIRHFENKFAV ETLICS-
Chimpanzee QKREASNCFAIRHFENKFAV ETLICS
Mouse QKREASNCFTIRHFENKFAV ETLICS
Rat QKREASNCFTIRHFENKFAV ETLICS
Pig QKREASNCATIRHFENKFAV ETLICS
Bovine QKRSADVCVTIRHFENRFAV ETLICP
Chicken QKREAVNCRKIRHFENRFAM ETLICE
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 – 266 Integral membrane protein 2B
244 – 266 Bri23 peptide
76 – 266 Lumenal
248 – 265 Interchain (between ADan peptide variants)
The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.
Audo I.; Bujakowska K.; Orhan E.; El Shamieh S.; Sennlaub F.; Guillonneau X.; Antonio A.; Michiels C.; Lancelot M.E.; Letexier M.; Saraiva J.P.; Nguyen H.; Luu T.D.; Leveillard T.; Poch O.; Dollfus H.; Paques M.; Goureau O.; Mohand-Said S.; Bhattacharya S.S.; Sahel J.A.; Zeitz C.;
Hum. Mol. Genet. 23:491-501(2014)
Cited for: INVOLVEMENT IN RDGCA; VARIANT RDGCA ALA-261;
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.