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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P05129: Variant p.His415Gln

Protein kinase C gamma type
Gene: PRKCG
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Variant information Variant position: help 415
Type of variant: help LB/B
Residue change: help From Histidine (H) to Glutamine (Q) at position 415 (H415Q, p.His415Gln).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and polar.
BLOSUM score: help 0


Sequence information Variant position: help 415
Protein sequence length: help 697
Location on the sequence: help CTLVEKRVLALGGRGPGGRP H FLTQLHSTFQTPDRLYFVME
Residue conservation: help
Human                         CTLVEKRVLALGGRGPGGRPHFLTQLHSTFQTPDRLYFVME

Mouse                         CTLVEKRVLALGGRGPGGRPHFLTQLHSTFQTPDRLYFVME

Rat                           CTLVEKRVLALGGRGPGGRPHFLTQLHSTFQTPDRLYFVME

Rabbit                        CTLVEKRVLALGGRGPGGRPHFLTQLHSTFQTPDRLYFVME

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 697 Protein kinase C gamma type
Domain 351 – 614 Protein kinase



Literature citations
Segregation of a PRKCG mutation in two RP11 families.
Al-Maghtheh M.; Vithana E.N.; Inglehearn C.F.; Moore T.; Bird A.C.; Bhattacharya S.S.;
Am. J. Hum. Genet. 62:1248-1252(1998)
Cited for: VARIANTS CYS-141; GLN-415; ASP-523 AND SER-659;
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