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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H251: Variant p.Met2531Val

Cadherin-23
Gene: CDH23
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Variant information Variant position: help 2531
Type of variant: help LB/B
Residue change: help From Methionine (M) to Valine (V) at position 2531 (M2531V, p.Met2531Val).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 2531
Protein sequence length: help 3354
Location on the sequence: help KPQFSTSVYENEPAGTSVIT M MATDQDEGPNGELTYSLEGP
Residue conservation: help 
Human                         KPQFSTSVYENEPAGTSVITMMATDQDEGPNGELTYSLEGP

Mouse                         KPQFSTSVYENEPAGTSVITMLATDQDEGSNSQLTYSLEGP

Rat                           KPQFSTSVYENEPAGTSVITMLATDQDEGSNGQLTYSLEGP
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 24 – 3354 Cadherin-23
Topological domain 24 – 3064 Extracellular
Domain 2510 – 2611 Cadherin 24
Alternative sequence 25 – 3127 Missing. In isoform 10 and isoform 11.
Alternative sequence 531 – 3354 Missing. In isoform 5.
Alternative sequence 1213 – 3354 Missing. In isoform 6.



Literature citations
Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.
Woo H.M.; Park H.J.; Park M.H.; Kim B.Y.; Shin J.W.; Yoo W.G.; Koo S.K.;
BMC Med. Genet. 15:46-46(2014)
Cited for: VARIANTS DFNB12 LEU-240; SER-342 AND LYS-1595; VARIANTS SER-361; MET-424; ASN-428; ALA-490; ASN-496; GLN-964; HIS-1010; SER-1118; ALA-1335; ASP-1351; GLN-1437; THR-1575; TRP-1588; ILE-1675; GLN-1804; GLU-1806; SER-1999; LYS-2044; ILE-2283; GLN-2358; LEU-2380; VAL-2531; VAL-2801; THR-3080 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.