UniProtKB/SwissProt variant VAR

Menin
Gene: MEN1
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Variant information Variant position:

153
Type of variant:

LP/P [Disclaimer]
Residue change:

From Aspartate (D) to Valine (V) at position 153 (D153V, p.Asp153Val).
Physico-chemical properties:

Change from medium size and acidic (D) to medium size and hydrophobic (V)
BLOSUM score:

-3
Variant description:

In MEN1; also found in isolated hyperparathyroidism.
Other resources:

Variant rs1565648789 [ dbSNP | Ensembl ]

Sequence information Variant position:

153
Protein sequence length:

610
Location on the sequence:

YFKDRAHIQSLFSFITGTKL D SSGVAFAVVGACQALGLRDV
Residue conservation:

Human                         YFKDRAHIQSLFSFITGTKLDSSGVAFAVVGACQALGLRDV

                              YFKDRAHIQSLFSFITGTKLDSSGVAFAVVGACQALGLRDV

Mouse                         YFKDRAHIQSLFSFITGTKLDSSGVAFAVVGACQALGLRDV

Rat                           YFKDRAHIQSLFSFITGTKLDSSGVAFAVVGACQALGLRDV

Bovine                        YFKDRAHIQSLFSFITGTKLDSSGVAFAVVGACQALGLRDV

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 610	Menin
Alternative sequence	148 – 148	T -> TGWSPV. In isoform 2.
Alternative sequence	148 – 148	Missing. In isoform 3.

Literature citations
Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism.
Pannett A.A.J.; Kennedy A.M.; Turner J.J.O.; Forbes S.A.; Cavaco B.M.; Bassett J.H.D.; Cianferotti L.; Harding B.; Shine B.; Flinter F.; Maidment C.G.H.; Trembath R.; Thakker R.V.;
Clin. Endocrinol. (Oxf.) 58:639-646(2003)
Cited for: VARIANTS MEN1 VAL-153 AND PRO-411; INVOLVEMENT IN ISOLATED HYPERPARATHYROIDISM;

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.Asp153Val