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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y5H4: Variant p.His282Gln

Protocadherin gamma-A1
Gene: PCDHGA1
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Variant information Variant position: help 282
Type of variant: help LB/B
Residue change: help From Histidine (H) to Glutamine (Q) at position 282 (H282Q, p.His282Gln).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and polar.
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 282
Protein sequence length: help 931
Location on the sequence: help LMVNATDPDEGANGEVTYSF H NVDHRVAQIFRLDSYTGEIS
Residue conservation: help
Human                         LMVNATDPDEGANGEVTYSFHNVDHRVAQIFRLDSYTGEIS

Chimpanzee                    LMVNATDPDEGANGEVTYSFHNVDHRVAQIFHLDSYTGEIS

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 29 – 931 Protocadherin gamma-A1
Topological domain 29 – 692 Extracellular
Domain 243 – 347 Cadherin 3
Glycosylation 265 – 265 N-linked (GlcNAc...) asparagine



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.