UniProtKB/SwissProt variant VAR

Menin
Gene: MEN1
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Variant information Variant position:

45
Type of variant:

LP/P [Disclaimer]
Residue change:

From Glutamate (E) to Lysine (K) at position 45 (E45K, p.Glu45Lys).
Physico-chemical properties:

Change from medium size and acidic (E) to large size and basic (K)
BLOSUM score:

1
Variant description:

In MEN1.
Other resources:

Variant rs1114167491 [ dbSNP | Ensembl ]

Sequence information Variant position:

45
Protein sequence length:

610
Location on the sequence:

AELGREEPDLVLLSLVLGFV E HFLAVNRVIPTNVPELTFQP
Residue conservation:

Human                         AELGREEPDLVLLSLVLGFVEHFLAVNRVIPTNVPELTFQP

                              AELGREEPDLVLLSLVLGFVEHFLAVNRVIPTNVPELTFQP

Mouse                         AELGREEPDLVLLSLVLGFVEHFLAVNRVIPTNVPELTFQP

Rat                           AELGREEPDLVLLSLVLGFVEHFLAVNRVIPTNVPELTFQP

Bovine                        AELGREEPDLVLLSLVLGFVEHFLAVNRVIPTNVPELTFQP

Sequence annotation in neighborhood:

Type	Positions	Description
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O00255: Variant p.Glu45Lys