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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95140: Variant p.Arg364Trp

Mitofusin-2
Gene: MFN2
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Variant information Variant position: help 364 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 Arginine (R) to Tryptophan (W) at position 364 (R364W, p.Arg364Trp). 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 basic (R) to large size and aromatic (W) 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 HMSN6A and CMT2A2A; likely pathogenic. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 364 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 757 The length of the canonical sequence.
Location on the sequence: help RFEECISQSAVKTKFEQHTV R AKQIAEAVRLIMDSLHMAAR 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                         RFEECISQSAVKTKFEQHTVRAKQIAEAVRLIMDSLHMAAR

Mouse                         QFEECISQSAVKTKFEQHTVRAKQIAEAVRLIMDSLHIAAQ

Rat                           RFEECISQSAVKTKFEQHTVRAKQIAEAVRLIMDSLHIAAQ
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 – 757 Mitofusin-2
Topological domain 1 – 604 Cytoplasmic
Region 359 – 385 Part of a helix bundle domain, formed by helices from N-terminal and C-terminal regions
Helix 331 – 397



Literature citations
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
Zuechner S.; De Jonghe P.; Jordanova A.; Claeys K.G.; Guergueltcheva V.; Cherninkova S.; Hamilton S.R.; Van Stavern G.; Krajewski K.M.; Stajich J.; Tournev I.; Verhoeven K.; Langerhorst C.T.; de Visser M.; Baas F.; Bird T.; Timmerman V.; Shy M.; Vance J.M.;
Ann. Neurol. 59:276-281(2006)
Cited for: VARIANTS HMSN6A TRP-94; ILE-206; ARG-276; TYR-361 AND TRP-364; Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.
Chung K.W.; Kim S.B.; Park K.D.; Choi K.G.; Lee J.H.; Eun H.W.; Suh J.S.; Hwang J.H.; Kim W.K.; Seo B.C.; Kim S.H.; Son I.H.; Kim S.M.; Sunwoo I.N.; Choi B.O.;
Brain 129:2103-2118(2006)
Cited for: VARIANT HMSN6A TRP-364; VARIANTS CMT2A2A PRO-92; TRP-94; MET-105; ASP-127; ARG-165; PRO-263; HIS-280; MET-362; TRP-364 AND THR-376; The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
Lin K.P.; Soong B.W.; Yang C.C.; Huang L.W.; Chang M.H.; Lee I.H.; Antonellis A.; Lee Y.C.;
PLoS ONE 6:E29393-E29393(2011)
Cited for: VARIANTS CMT2A2A VAL-233; TRP-364 AND MET-744;
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.