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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q495M9: Variant p.Leu48Pro

pre-mRNA splicing regulator USH1G
Gene: USH1G
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Variant information Variant position: help 48
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Proline (P) at position 48 (L48P, p.Leu48Pro).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In USH1G; reduced interaction with IFT52 and IFT57.
Other resources: help


Sequence information Variant position: help 48
Protein sequence length: help 461
Location on the sequence: help PDEDGMTPTLWAAYHGNLES L RLIVSRGGDPDKCDIWGNTP
Residue conservation: help 
Human                         PDEDGMTPTLWAAYHGNLESLRLIVSRGGDPDKCDIWGNTP

Mouse                         PDEDGMTPTLWAAYHGNLESLRLIVSRGGDPDKCDIWGNTP
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 461 pre-mRNA splicing regulator USH1G
Repeat 31 – 60 ANK 1



Literature citations
SANS (USH1G) Molecularly Links the Human Usher Syndrome Protein Network to the Intraflagellar Transport Module by Direct Binding to IFT-B Proteins.
Sorusch N.; Yildirim A.; Knapp B.; Janson J.; Fleck W.; Scharf C.; Wolfrum U.;
Front. Cell Dev. Biol. 7:216-216(2019)
Cited for: INTERACTION WITH IFT20; IFT52 AND IFT57; CHARACTERIZATION OF VARIANT USH1G PRO-48 AND VARIANT VAL-104; Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.
Weil D.; El-Amraoui A.; Masmoudi S.; Mustapha M.; Kikkawa Y.; Laine S.; Delmaghani S.; Adato A.; Nadifi S.; Zina Z.B.; Hamel C.; Gal A.; Ayadi H.; Yonekawa H.; Petit C.;
Hum. Mol. Genet. 12:463-471(2003)
Cited for: VARIANT USH1G PRO-48; INTERACTION WITH USH1C; TISSUE SPECIFICITY; POSSIBLE FUNCTION;
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.