Variant position: 707 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 QVQQELSGTFAHLCQQVDVT RENLEQEIAAMNKKIEVLDSL
Mouse QVQQELSGTFAHLCQQVDIT RDNLEQEIAAMNKKVEALDSL
Rat QVQQELSGTFAHLCQQVDIT RDNLEQEIAAMNKKVEALDSL
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.
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.
Sawyer S.L.; Cheuk-Him Ng A.; Innes A.M.; Wagner J.D.; Dyment D.A.; Tetreault M.; Majewski J.; Boycott K.M.; Screaton R.A.; Nicholson G.;
Hum. Mol. Genet. 24:5109-5114(2015)
Cited for: FUNCTION; SUBUNIT; VARIANT CMT2A2B TRP-707; CHARACTERIZATION OF VARIANT HMSN6A TRP-94; CHARACTERIZATION OF VARIANT CMT2A2B TRP-707;
Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations.
Nicholson G.A.; Magdelaine C.; Zhu D.; Grew S.; Ryan M.M.; Sturtz F.; Vallat J.M.; Ouvrier R.A.;
Cited for: VARIANTS CMT2A2B VAL-164; ASN-214; MET-362; ARG-390 AND TRP-707;
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;
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.