UniProtKB/Swiss-Prot Q495M9: Variant p.Met104Val

pre-mRNA splicing regulator USH1G
Gene: USH1G
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Variant information Variant position:

104 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Methionine (M) to Valine (V) at position 104 (M104V, p.Met104Val). 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:

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:

1 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:

Found in patients with non-syndromic sensorineural hearing loss; likely pathogenic; reduced interaction with IFT52 and IFT57; failure to rescue the USH1C splicing defect seen in USH1G-depleted cells. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs149529031 [ dbSNP | Ensembl ]

Sequence information Variant position:

104 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

461 The length of the canonical sequence.
Location on the sequence:

LVSFGANIWCLDNDYHTPLD M AAMKGHMECVRYLDSIAAKQ 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:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         LVSFGANIWCLDNDYHTPLDMAAMKGHMECVRYLDSIAAKQ

Mouse                         LVSFGANIWCLDNDYHTPLDMAAMKGHMECVRYLDSIAAKQ

Sequence annotation in neighborhood:

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.

Type	Positions	Description
Chain	1 – 461	pre-mRNA splicing regulator USH1G
Repeat	97 – 126	ANK 3

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; SANS (USH1G) regulates pre-mRNA splicing by mediating the intra-nuclear transfer of tri-snRNP complexes.
Yildirim A.; Mozaffari-Jovin S.; Wallisch A.K.; Schaefer J.; Ludwig S.E.J.; Urlaub H.; Luehrmann R.; Wolfrum U.;
Nucleic Acids Res. 49:5845-5866(2021)
Cited for: FUNCTION; INTERACTION WITH SF3B1; PRPF6; PRPF31; SON AND U4/U6.U5 TRI-SNRNP COMPLEX; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT VAL-104; Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum.
Oonk A.M.; van Huet R.A.; Leijendeckers J.M.; Oostrik J.; Venselaar H.; van Wijk E.; Beynon A.; Kunst H.P.; Hoyng C.B.; Kremer H.; Schraders M.; Pennings R.J.;
Ear Hear. 36:205-211(2015)
Cited for: INVOLVEMENT IN NON-SYNDROMIC SENSORINEURAL HEARING LOSS; VARIANT VAL-104;

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.