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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q6N022: Variant p.Val1138Met

Teneurin-4
Gene: TENM4
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Variant information Variant position: help 1138 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 Valine (V) to Methionine (M) at position 1138 (V1138M, p.Val1138Met). 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 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 ETM5; dominant negative effect on central nervous myelination and axon guidance; changed localization to the plasma membrane; clustered plasma membrane localization. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1138 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2769 The length of the canonical sequence.
Location on the sequence: help WDKTDVYNQKVFGLSEAFVS V GYEYESCPDLILWEKRTTVL 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                         WDKTDVYNQKVFGLSEAFVSVGYEYESCPDLILWEKRTTVL

Mouse                         WDKTDVYNQKVFGLSEAFVSVGYEYESCPDLILWEKRTAVL

Zebrafish                     WDKTDVYSQKVYGLSEAFVSVGFEYESCPDLILWEKRTAVL
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 – 2769 Teneurin-4
Topological domain 367 – 2769 Extracellular
Beta strand 1129 – 1144



Literature citations
Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.
Hor H.; Francescatto L.; Bartesaghi L.; Ortega-Cubero S.; Kousi M.; Lorenzo-Betancor O.; Jimenez-Jimenez F.J.; Gironell A.; Clarimon J.; Drechsel O.; Agundez J.A.; Kenzelmann Broz D.; Chiquet-Ehrismann R.; Lleo A.; Coria F.; Garcia-Martin E.; Alonso-Navarro H.; Marti M.J.; Kulisevsky J.; Hor C.N.; Ossowski S.; Chrast R.; Katsanis N.; Pastor P.; Estivill X.;
Hum. Mol. Genet. 24:5677-5686(2015)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INVOLVEMENT IN ETM5; VARIANTS ETM5 PRO-53; ASP-474; GLN-518; MET-1128; MET-1138; ASN-1367; THR-1442; GLN-1535; HIS-1632; ARG-1763 AND ILE-2451; CHARACTERIZATION OF VARIANTS ETM5 MET-1138; ASN-1367 AND THR-1442;
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.