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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q12965: Variant p.Thr119Ile

Unconventional myosin-Ie
Gene: MYO1E
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Variant information Variant position: help 119 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 Threonine (T) to Isoleucine (I) at position 119 (T119I, p.Thr119Ile). 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 Change from medium size and polar (T) to medium size and hydrophobic (I) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In FSGS6; results in altered clathrin-coated vesicle dynamics when expressed in a heterolgous system; severely decreased localization to cell-cell junctions and clathrin-coated vesicles. Any additional useful information about the variant.


Sequence information Variant position: help 119 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1108 The length of the canonical sequence.
Location on the sequence: help MIIDRENQCVIISGESGAGK T VAAKYIMSYISRVSGGGTKV 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                         MIIDRENQCVIISGESGAGKTVAAKYIMSYISRVSGGGTKV

Mouse                         MIIDRENQCVIISGESGAGKTVAAKYIMSYVSRVSGGGPKV

Rat                           MIIDRENQCVIISGESGAGKTVAAKYIMSYVSRVSGGGPKV
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 – 1108 Unconventional myosin-Ie
Domain 19 – 692 Myosin motor
Binding site 112 – 119



Literature citations
A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.
Al-Hamed M.H.; Al-Sabban E.; Al-Mojalli H.; Al-Harbi N.; Faqeih E.; Al Shaya H.; Alhasan K.; Al-Hissi S.; Rajab M.; Edwards N.; Al-Abbad A.; Al-Hassoun I.; Sayer J.A.; Meyer B.F.;
J. Hum. Genet. 58:480-489(2013)
Cited for: VARIANTS FSGS6 47-TYR--ILE-1108 DEL AND ILE-119; Steroid-Resistant Nephrotic Syndrome-Associated MYO1E Mutations Have Differential Effects on Myosin 1e Localization, Dynamics, and Activity.
Liu P.J.; Gunther L.K.; Garone M.E.; Zhang C.; Perez D.; Bi-Karchin J.; Pellenz C.D.; Chase S.E.; Presti M.F.; Plante E.L.; Martin C.E.; Lovric S.; Yengo C.M.; Hildebrandt F.; Krendel M.;
J. Am. Soc. Nephrol. 33:1989-2007(2022)
Cited for: CHARACTERIZATION OF VARIANTS FSGS6 ILE-119 AND HIS-388; FUNCTION; SUBCELLULAR LOCATION;
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.