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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95140: Variant p.Val705Ile

Mitofusin-2
Gene: MFN2
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Variant information Variant position: help 705
Type of variant: help LB/B
Residue change: help From Valine (V) to Isoleucine (I) at position 705 (V705I, p.Val705Ile).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 3
Other resources: help


Sequence information Variant position: help 705
Protein sequence length: help 757
Location on the sequence: help SHQVQQELSGTFAHLCQQVD V TRENLEQEIAAMNKKIEVLD
Residue conservation: help 
Human                         SHQVQQELSGTFAHLCQQVDVTRENLEQEIAAMNKKIEVLD

Mouse                         SHQVQQELSGTFAHLCQQVDITRDNLEQEIAAMNKKVEALD

Rat                           SHQVQQELSGTFAHLCQQVDITRDNLEQEIAAMNKKVEALD
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 757 Mitofusin-2
Topological domain 648 – 757 Cytoplasmic
Coiled coil 695 – 738
Alternative sequence 705 – 757 VTRENLEQEIAAMNKKIEVLDSLQSKAKLLRNKAGWLDSELNMFTHQYLQPSR -> GETLSERSMAKSTLMLLTLLFLCSFAGAQDVLTQ. In isoform 2.



Literature citations
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;
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.