POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations R964C and R964C.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

406

R964C1

R964C1

34-year-old HIV-1–infected Thai woman who had been asymptomatic until the development of Pneumocystis jiroveci pneumonia. She had suffered from severe lactic acidosis after 1 year of use of d4T and lamivudine (3TC). Her peak lactate level was 67 mg/dL, and paresthesia was still present in both legs after 15 years of cessation of d4T treatment. Severe lactic acidosis induced by 1 year of treatment with d4T.

-	lactic acidosis

adult

n/a

Yamanaka et al, 2007;

[view data]

^1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

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