Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92574: Variant p.His732Tyr

Hamartin
Gene: TSC1
Feedback?
Variant information Variant position: help 732
Type of variant: help LB/B
Residue change: help From Histidine (H) to Tyrosine (Y) at position 732 (H732Y, p.His732Tyr).
Physico-chemical properties: help Change from medium size and polar (H) to large size and aromatic (Y)
BLOSUM score: help 2
Other resources: help


Sequence information Variant position: help 732
Protein sequence length: help 1164
Location on the sequence: help HALRNRRLLRKVIKAAALEE H NAAMKDQLKLQEKDIQMWKV
Residue conservation: help 
Human                         HALRNRRLLRKVIKAAALEEHNAAMKDQLKLQEKDIQMWKV

Mouse                         HALRNRRLLRKVIRAAALEEHNAAMKDQLKLQEKDIQMWKV

Rat                           HALRNRRLLRKVIRAAALEEHNAAMKDQLKLQEKDIQMWKV

Fission yeast                 HLQNIGKLHREHILDMAVESERQKLLLTNKRYKAQIELLNS
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1164 Hamartin
Region 403 – 787 Mediates interaction with WDR45B
Coiled coil 721 – 997



Literature citations
Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.
Jones A.C.; Daniells C.E.; Snell R.G.; Tachataki M.; Idziaszczyk S.A.; Krawczak M.; Sampson J.R.; Cheadle J.P.;
Hum. Mol. Genet. 6:2155-2161(1997)
Cited for: VARIANT TSC1 GLU-726; VARIANTS THR-322; TYR-732 AND SER-1035; Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.
Kwiatkowska J.; Jozwiak S.; Hall F.; Henske E.P.; Haines J.L.; McNamara P.; Braiser J.; Wigowska-Sowinska J.; Kasprzyk-Obara J.; Short M.P.; Kwiatkowski D.J.;
Ann. Hum. Genet. 62:277-285(1998)
Cited for: VARIANTS THR-322; ARG-587; TYR-732; SER-1035 AND SER-1108; Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.
Niida Y.; Lawrence-Smith N.; Banwell A.; Hammer E.; Lewis J.; Beauchamp R.L.; Sims K.; Ramesh V.; Ozelius L.;
Hum. Mutat. 14:412-422(1999)
Cited for: VARIANTS THR-322; TYR-732 AND GLN-809; Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis.
Becker A.J.; Urbach H.; Scheffler B.; Baden T.; Normann S.; Lahl R.; Pannek H.W.; Tuxhorn I.; Elger C.E.; Schramm J.; Wiestler O.D.; Bluemcke I.;
Ann. Neurol. 52:29-37(2002)
Cited for: VARIANT TYR-732;
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.