Variant position: 206 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 223 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 GWSLALGWISFIAELLTGAA FLAAARELSLRRRQDQAI
Mouse GWSLALGWISFVSELLTGVV FLAAARALSLSQRQDQAI
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 – 223 Transmembrane protein 114
189 – 209 Helical
Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.
Jamieson R.V.; Farrar N.; Stewart K.; Perveen R.; Mihelec M.; Carette M.; Grigg J.R.; McAvoy J.W.; Lovicu F.J.; Tam P.P.L.; Scambler P.; Lloyd I.C.; Donnai D.; Black G.C.M.;
Hum. Mutat. 28:968-977(2007)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-73; VARIANTS THR-35; VAL-147 AND LEU-206; CHROMOSOMAL TRANSLOCATION;
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.