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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O00255: Variant p.Val215Met

Menin
Gene: MEN1
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Variant information Variant position: help 215
Type of variant: help LP/P [Disclaimer]
Residue change: help From Valine (V) to Methionine (M) at position 215 (V215M, p.Val215Met).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Variant description: help In MEN1.
Other resources: help


Sequence information Variant position: help 215
Protein sequence length: help 610
Location on the sequence: help EVTWHGKGNEDRRGQTVNAG V AERSWLYLKGSYMRCDRKME
Residue conservation: help 
Human                         EVTWHGKGNEDRRGQTVNAGVAERSWLYLKGSYMRCDRKME

                              EVTWHGKGNEDRRGQTVNAGVAERSWLYLKGSYMRCDRKME

Mouse                         EVTWHGKGNEDRRGQTVNAGVAERSWLYLKGSYMRCDRKME

Rat                           EVTWHGKGNEDRRGQTVNAGVAERSWLYLKGSYMRCDRKME

Bovine                        EVTWHGKGNEDRRGQTVNAGVAERSWLYLKGSYMRCDRKME
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 610 Menin
Region 214 – 390 Interaction with FANCD2
Alternative sequence 184 – 218 Missing. In isoform 3.
Helix 212 – 216



Literature citations
MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1.
Morelli A.; Falchetti A.; Martineti V.; Becherini L.; Mark M.; Friedman E.; Brandi M.L.;
Eur. J. Endocrinol. 142:131-137(2000)
Cited for: VARIANTS MEN1 LYS-45; MET-215 AND ARG-344; Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory.
Klein R.D.; Salih S.; Bessoni J.; Bale A.E.;
Genet. Med. 7:131-138(2005)
Cited for: VARIANTS MEN1 VAL-144; ASP-156; ASP-179; LYS-179; ARG-181; MET-215; ARG-259; ARG-320; TRP-355; TYR-421; CYS-436 AND ARG-436;
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.