Variant position: 705 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 SHQVQQELSGTFAHLCQQVD VTRENLEQEIAAMNKKIEVLD
Mouse SHQVQQELSGTFAHLCQQVD ITRDNLEQEIAAMNKKVEALD
Rat SHQVQQELSGTFAHLCQQVD ITRDNLEQEIAAMNKKVEALD
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
695 – 738
705 – 757 VTRENLEQEIAAMNKKIEVLDSLQSKAKLLRNKAGWLDSELNMFTHQYLQPSR -> GETLSERSMAKSTLMLLTLLFLCSFAGAQDVLTQ. In isoform 2.
Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).
Engelfried K.; Vorgerd M.; Hagedorn M.; Haas G.; Gilles J.; Epplen J.T.; Meins M.;
BMC Med. Genet. 7:53-53(2006)
Cited for: VARIANTS CMT2A2A VAL-127; VAL-347; ILE-376 AND HIS-468; VARIANT ILE-705;
MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.
Braathen G.J.; Sand J.C.; Lobato A.; Hoeyer H.; Russell M.B.;
BMC Med. Genet. 11:48-48(2010)
Cited for: VARIANT HMSN6A TRP-94; VARIANT CMT2A2B GLN-94; VARIANTS HIS-468; SER-570; ILE-705 AND THR-716; VARIANT CMT2A2A TRP-707;
The MFN2 V705I variant is not a disease-causing mutation: a segregation analysis in a CMT2 family.
Albulym O.M.; Zhu D.; Reddel S.; Kennerson M.; Nicholson G.;
J. Neurodegener. Dis. 2013:495873-495873(2013)
Cited for: VARIANT ILE-705;
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