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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H251: Variant p.Val746Ile

Cadherin-23
Gene: CDH23
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Variant information Variant position: help 746
Type of variant: help LB/B
Residue change: help From Valine (V) to Isoleucine (I) at position 746 (V746I, p.Val746Ile).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 3
Other resources: help


Sequence information Variant position: help 746
Protein sequence length: help 3354
Location on the sequence: help GEITTTSLLDRETKSEYILI V RAVDGGVGHNQKTGIATVNI
Residue conservation: help 
Human                         GEITTTSLLDRETKSEYILIVRAVDGGVGHNQKTGIATVNI

Mouse                         GEITTTSLLDRETKSEYILIVRAVDGGVGHNQKTGIATVNV

Rat                           GEITTTSLLDRETKAEYILIVRAVDGGVGHNQKTGIATVNV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 24 – 3354 Cadherin-23
Topological domain 24 – 3064 Extracellular
Domain 672 – 784 Cadherin 7
Glycosylation 765 – 765 N-linked (GlcNAc...) asparagine
Alternative sequence 1 – 2240 Missing. In isoform 7 and isoform 9.
Alternative sequence 25 – 3127 Missing. In isoform 10 and isoform 11.
Alternative sequence 531 – 3354 Missing. In isoform 5.
Beta strand 741 – 749



Literature citations
Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.
Oshima A.; Jaijo T.; Aller E.; Millan J.M.; Carney C.; Usami S.; Moller C.; Kimberling W.J.;
Hum. Mutat. 29:E37-E46(2008)
Cited for: VARIANTS USH1D THR-366; TYR-755; ILE-1090; SER-1098; HIS-1496; LEU-1788; TRP-1912; ASN-1930; SER-2017; VAL-2376; ILE-2530; SER-2771 AND ALA-2968; VARIANTS ALA-490; ASN-496; ILE-746; GLY-944; LYS-960; THR-1222; GLN-1236; SER-1282; CYS-1349; ASP-1351; GLN-1437; MET-1520; THR-1574; ILE-1675; SER-1999; ILE-2283; LEU-2380; GLN-2588 AND LEU-3125;
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.