UniProtKB/Swiss-Prot O95140: Variant p.Val705Ile

Mitofusin-2
Gene: MFN2
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Variant information Variant position:

705 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Valine (V) to Isoleucine (I) at position 705 (V705I, p.Val705Ile). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Other resources:

Links to websites of interest for the variant.

Variant rs142271930 [ dbSNP | Ensembl ]

Sequence information 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:

SHQVQQELSGTFAHLCQQVD V TRENLEQEIAAMNKKIEVLD 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                         SHQVQQELSGTFAHLCQQVDVTRENLEQEIAAMNKKIEVLD

Mouse                         SHQVQQELSGTFAHLCQQVDITRDNLEQEIAAMNKKVEALD

Rat                           SHQVQQELSGTFAHLCQQVDITRDNLEQEIAAMNKKVEALD

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
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.