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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8N126: Variant p.Tyr138Cys

Cell adhesion molecule 3
Gene: CADM3
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Variant information Variant position: help 138 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 Tyrosine (Y) to Cysteine (C) at position 138 (Y138C, p.Tyr138Cys). 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 large size and aromatic (Y) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 CMT2FF; results in misfolding due to the creation of a non-native disulfide bond with C-152; reduces cell 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 138 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 398 The length of the canonical sequence.
Location on the sequence: help RTAKSLVTVLGIPQKPIITG Y KSSLREKDTATLNCQSSGSK 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                         RTAKSLVTVLGIPQKPIITGYKSSLREKDTATLNCQSSGSK

Mouse                         RTAKSLVTVLGIPQKPIITGYKSSLREKETATLNCQSSGSK

Rat                           RTAKSLVTVLGIPQKPIITGYKSSLREKETATLNCQSSGSK

Xenopus laevis                RTAKAVVTVLGVPQKPQVSGFESAFKENDKAKLRCTTSGSK
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 25 – 398 Cell adhesion molecule 3
Topological domain 25 – 330 Extracellular
Domain 130 – 228 Ig-like C2-type 1



Literature citations
A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
Rebelo A.P.; Cortese A.; Abraham A.; Eshed-Eisenbach Y.; Shner G.; Vainshtein A.; Buglo E.; Camarena V.; Gaidosh G.; Shiekhattar R.; Abreu L.; Courel S.; Burns D.K.; Bai Y.; Bacon C.; Feely S.M.E.; Castro D.; Peles E.; Reilly M.M.; Shy M.E.; Zuchner S.;
Brain 144:1197-1213(2021)
Cited for: VARIANT CMT2FF CYS-138; INVOLVEMENT IN CMT2FF; CHARACTERIZATION OF VARIANT CMT2FF CYS-138; Novel variant in CADM3 causes Charcot-Marie-Tooth disease.
Yalcouye A.; Rebelo A.P.; Cisse L.; Rives L.; Bamba S.; Cogan J.; Esoh K.; Diarra S.; Ezell K.M.; Tamega A.; Guinto C.O.; Dohrn M.F.; Hamid R.; Fischbeck K.H.; Zuchner S.; Landoure G.;
Brain Commun. 5:fcad227-fcad227(2023)
Cited for: VARIANT CMT2FF CYS-334; CHARACTERIZATION OF VARIANTS CMT2FF CYS-33 AND CYS-138; 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.