Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13402: Variant p.Ala457Val

Unconventional myosin-VIIa
Gene: MYO7A
Feedback?
Variant information Variant position: help 457
Type of variant: help LP/P [Disclaimer]
Residue change: help From Alanine (A) to Valine (V) at position 457 (A457V, p.Ala457Val).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and hydrophobic (V)
BLOSUM score: help 0
Variant description: help In USH1B.
Other resources: help


Sequence information Variant position: help 457
Protein sequence length: help 2215
Location on the sequence: help DIFGFENFAVNSFEQLCINF A NEHLQQFFVRHVFKLEQEEY
Residue conservation: help 
Human                         DIFGFENFAVNSFEQLCINFANEHLQQFFVRHVFKLEQEEY

Mouse                         DIFGFENFTVNSFEQLCINFANEHLQQFFVRHVFKLEQEEY

Drosophila                    DIFGFENFDQNSFEQFCINYANENLQQFFVQHIFKLEQEEY
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 2215 Unconventional myosin-VIIa
Domain 65 – 741 Myosin motor



Literature citations
Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I.
Bharadwaj A.K.; Kasztejna J.P.; Huq S.; Berson E.L.; Dryja T.P.;
Exp. Eye Res. 71:173-181(2000)
Cited for: VARIANTS USH1B GLU-26; MET-67; PRO-90; ASN-134; CYS-241; LYS-269 DEL; VAL-457; ASP-519; ASP-968; GLN-1240; PRO-1288; PHE-1346 DEL; TRP-1743; PRO-1858; LEU-1887 AND ASP-2187;
Disclaimer: 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.