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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O00255: Variant p.Leu168Pro

Menin
Gene: MEN1
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Variant information Variant position: help 168
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Proline (P) at position 168 (L168P, p.Leu168Pro).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In MEN1.
Other resources: help


Sequence information Variant position: help 168
Protein sequence length: help 610
Location on the sequence: help TGTKLDSSGVAFAVVGACQA L GLRDVHLALSEDHAWVVFGP
Residue conservation: help 
Human                         TGTKLDSSGVAFAVVGACQALGLRDVHLALSEDHAWVVFGP

                              TGTKLDSSGVAFAVVGACQALGLRDVHLALSEDHAWVVFGP

Mouse                         TGTKLDSSGVAFAVVGACQALGLRDVHLALSEDHAWVVFGP

Rat                           TGTKLDSSGVAFAVVGACQALGLRDVHLALSEDHAWVVFGS

Bovine                        TGTKLDSSGVAFAVVGACQALGLRDVHLALSEDHAWVVFGP
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.
Mutagenesis 182 – 182 A -> F. Reduced interaction with KMT2A.



Literature citations
MEN1 gene mutations in 12 MEN1 families and their associated tumors.
Bartsch D.; Kopp I.; Bergenfelz A.; Rieder H.; Muench K.; Jaeger K.; Deiss Y.; Schudy A.; Barth P.; Arnold R.; Rothmund M.; Simon B.;
Eur. J. Endocrinol. 139:416-420(1998)
Cited for: VARIANTS MEN1 LYS-26 AND PRO-168;
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.