NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser) AND Retinitis pigmentosa 14

Significance: Pathogenic
ClinVar: RCV000007787

Variant: NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser)

Type: Variant
Allele: NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser) 22401
Type: single nucleotide variant
Location: Chr6: 35503816 - assembly GRCh38
Chr6: 35471593 - assembly GRCh37
References: dbSNP: 121909076
OMIM: 602280.0006
UniProtKB: O00294#VAR_037584


Disease: Retinitis pigmentosa 14


    In a 20-year-old Japanese woman diagnosed with retinitis pigmentosa (RP14; 600132) at 8 years of age, Kondo et al. (2004) detected homozygosity for a 1145T-C transition in the TULP1 gene that resulted in a phe382-to-ser (F382S) substitution. Phe382 is located in the tubby C-terminal domain and is highly conserved between human, mouse, rat, and chicken TULP1 as well as human TULP2 (602309). The patient's affected brother also received a diagnosis of retinitis pigmentosa together with color vision alteration at 8 years of age. Although the clinical features of these sibs matched well with previously reported features, the patients lacked severe central vision dysfunction and nystagmus, which had been regarded as characteristic findings at all stages of the disease (Lewis et al., 1999), suggesting that the F382S mutation results in a relatively mild reduction of protein function.
PMID:10440267, PMID:15557452