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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 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Leucine (L) to Proline (P) at position 48 (L48P, p.Leu48Pro). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In USH1G; reduced interaction with IFT52 and IFT57. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 48 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 461 The length of the canonical sequence.
Location on the sequence: help PDEDGMTPTLWAAYHGNLES L RLIVSRGGDPDKCDIWGNTP The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         PDEDGMTPTLWAAYHGNLESLRLIVSRGGDPDKCDIWGNTP

Mouse                         PDEDGMTPTLWAAYHGNLESLRLIVSRGGDPDKCDIWGNTP
Sequence annotation in neighborhood: help The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.
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.