Variant position: 94 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 QVLDVKGYLSKVRGISEVLA RRHMKVAFFGRTSNGKSTVIN
Mouse QVLDVKGYLSKVRGISEVLA RRHMKVAFFGRTSNGKSTVIN
Rat QVLDVKGYLSKVRGISEVLA RRHMKVAFFGRTSNGKSTVIN
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
1 – 604 Cytoplasmic
93 – 342 Dynamin-type G
30 – 94 Part of a helix bundle domain, formed by helices from N-terminal and C-terminal regions
111 – 111 Phosphothreonine; by PINK1
1 – 302 Missing. In isoform 2.
109 – 109 K -> AT. Does not affect its ability to cluster mitochondria; when overexpressed.
110 – 110 S -> N. Does not affect its ability to cluster mitochondria; when overexpressed.
111 – 111 T -> A. Diminishes interaction with PRKN in presence of PINK1. Abolishes phosphorylation by PINK1 and interaction with PRKN in presence of PINK1; when associated with ALA-442.
111 – 111 T -> E. Interacts with PRKN in absence of PINK1; when associated with GLU-442.
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;
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;
Application of whole exome sequencing in undiagnosed inherited polyneuropathies.
Klein C.J.; Middha S.; Duan X.; Wu Y.; Litchy W.J.; Gu W.; Dyck P.J.; Gavrilova R.H.; Smith D.I.; Kocher J.P.; Dyck P.J.;
J. Neurol. Neurosurg. Psych. 85:1265-1272(2014)
Cited for: VARIANT HMSN6A GLN-94;
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