Variant position: 713 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 761 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 LVLSGALIILVASPLRALRA RGKVQGCETLRPGEKAPLSRE
Mouse IVLLGVLTLLLASPLGALRA RGKVQGCGMLPPREKAPLSRD
Bovine LVLSGALVTFLVSPLGALRA RGKVQGCGTLPSREKAPLSSE
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
33 – 761 Semaphorin-4A
705 – 761 Cytoplasmic
SEMA4A mutations lead to susceptibility to light irradiation, oxidative stress, and ER stress in retinal pigment epithelial cells.
Tsuruma K.; Nishimura Y.; Kishi S.; Shimazawa M.; Tanaka T.; Hara H.;
Invest. Ophthalmol. Vis. Sci. 53:6729-6737(2012)
Cited for: SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT GLN-713; CHARACTERIZATION OF VARIANTS RP35 HIS-345 AND CYS-350;
Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases.
Abid A.; Ismail M.; Mehdi S.Q.; Khaliq S.;
J. Med. Genet. 43:378-381(2006)
Cited for: VARIANTS RP35 HIS-345 AND CYS-350; VARIANTS CORD10 HIS-345 AND CYS-350; VARIANT GLN-713;
On variants and disease-causing mutations: Case studies of a SEMA4A variant identified in inherited blindness.
Bryant L.; Lozynska O.; Han G.; Morgan J.I.W.; Gai X.; Maguire A.M.; Aleman T.; Bennett J.;
Ophthalmic Genet. 39:144-146(2018)
Cited for: VARIANT GLN-713;
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.