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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O00255: Variant p.Glu45Lys

Menin
Gene: MEN1
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Variant information Variant position: help 45
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glutamate (E) to Lysine (K) at position 45 (E45K, p.Glu45Lys).
Physico-chemical properties: help Change from medium size and acidic (E) to large size and basic (K)
BLOSUM score: help 1
Variant description: help In MEN1.
Other resources: help


Sequence information Variant position: help 45
Protein sequence length: help 610
Location on the sequence: help AELGREEPDLVLLSLVLGFV E HFLAVNRVIPTNVPELTFQP
Residue conservation: help
Human                         AELGREEPDLVLLSLVLGFVEHFLAVNRVIPTNVPELTFQP

                              AELGREEPDLVLLSLVLGFVEHFLAVNRVIPTNVPELTFQP

Mouse                         AELGREEPDLVLLSLVLGFVEHFLAVNRVIPTNVPELTFQP

Rat                           AELGREEPDLVLLSLVLGFVEHFLAVNRVIPTNVPELTFQP

Bovine                        AELGREEPDLVLLSLVLGFVEHFLAVNRVIPTNVPELTFQP

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 610 Menin
Helix 34 – 49



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; Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients.
Cebrian A.; Ruiz-Llorente S.; Cascon A.; Pollan M.; Diez J.J.; Pico A.; Telleria D.; Benitez J.; Robledo M.;
J. Med. Genet. 40:E72-E72(2003)
Cited for: VARIANTS MEN1 LYS-45 AND PRO-139; VARIANTS GLN-171 AND ALA-541;
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.