Variant position: 740 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 757 The length of the canonical sequence.
Location on the sequence:
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 KIEVLDSLQSKAKLLRNKAG WLDSELNMFTHQYLQPSR
Mouse KVEALDSLQSRAKLLRNKAG WLDSELNMFTHQYLQPSR
Rat KVEALDSLQSKAKLLRNKAG WLDSELNMFIHQYLQPSR
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
1 – 757 Mitofusin-2
648 – 757 Cytoplasmic
722 – 753 Part of a helix bundle domain, formed by helices from N-terminal and C-terminal regions
705 – 757 VTRENLEQEIAAMNKKIEVLDSLQSKAKLLRNKAGWLDSELNMFTHQYLQPSR -> GETLSERSMAKSTLMLLTLLFLCSFAGAQDVLTQ. In isoform 2.
724 – 752
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
Zuechner S.; Mersiyanova I.V.; Muglia M.; Bissar-Tadmouri N.; Rochelle J.; Dadali E.L.; Zappia M.; Nelis E.; Patitucci A.; Senderek J.; Parman Y.; Evgrafov O.; Jonghe P.D.; Takahashi Y.; Tsuji S.; Pericak-Vance M.A.; Quattrone A.; Battaloglu E.; Polyakov A.V.; Timmerman V.; Schroeder J.M.; Vance J.M.;
Nat. Genet. 36:449-451(2004)
Cited for: DISEASE; VARIANTS CMT2A2A PHE-69; PRO-76; GLN-94; ALA-251; HIS-280 AND SER-740;
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.