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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P05129: Variant p.Ala523Asp

Protein kinase C gamma type
Gene: PRKCG
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Variant information Variant position: help 523
Type of variant: help LB/B
Residue change: help From Alanine (A) to Aspartate (D) at position 523 (A523D, p.Ala523Asp).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and acidic (D)
BLOSUM score: help -2


Sequence information Variant position: help 523
Protein sequence length: help 697
Location on the sequence: help KENVFPGTTTRTFCGTPDYI A PEIIAYQPYGKSVDWWSFGV
Residue conservation: help 
Human                         KENVFPGTTTRTFCGTPDYIAPEIIAYQPYGKSVDWWSFGV

Mouse                         KENVFPGSTTRTFCGTPDYIAPEIIAYQPYGKSVDWWSFGV

Rat                           KENVFPGSTTRTFCGTPDYIAPEIIAYQPYGKSVDWWSFGV

Rabbit                        KENVFPGTTTRTFCGTPDYIAPEIIAYQPYGKSVDWWSFGV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 697 Protein kinase C gamma type
Domain 351 – 614 Protein kinase
Modified residue 514 – 514 Phosphothreonine; by PDPK1



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;
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.