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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O00255: Variant p.Asp153Val

Menin
Gene: MEN1
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Variant information Variant position: help 153
Type of variant: help LP/P [Disclaimer]
Residue change: help From Aspartate (D) to Valine (V) at position 153 (D153V, p.Asp153Val).
Physico-chemical properties: help Change from medium size and acidic (D) to medium size and hydrophobic (V)
BLOSUM score: help -3
Variant description: help In MEN1; also found in isolated hyperparathyroidism.
Other resources: help


Sequence information Variant position: help 153
Protein sequence length: help 610
Location on the sequence: help YFKDRAHIQSLFSFITGTKL D SSGVAFAVVGACQALGLRDV
Residue conservation: help
Human                         YFKDRAHIQSLFSFITGTKLDSSGVAFAVVGACQALGLRDV

                              YFKDRAHIQSLFSFITGTKLDSSGVAFAVVGACQALGLRDV

Mouse                         YFKDRAHIQSLFSFITGTKLDSSGVAFAVVGACQALGLRDV

Rat                           YFKDRAHIQSLFSFITGTKLDSSGVAFAVVGACQALGLRDV

Bovine                        YFKDRAHIQSLFSFITGTKLDSSGVAFAVVGACQALGLRDV

Sequence annotation in neighborhood: help
TypePositionsDescription
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.