Variant position: 316 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 615 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human PTPGRPDPLTLYHKGIASAK TYYRDEHIYPYMYLAGYHCRN
Mouse PTPGRPDPLTLYHKGIASAK TYYQDEHIYPYMYLAGYHCRN
Rat PTPGRPDPLTLYHKGIASAK TYYQDEHIYPYMYLAGYHCRN
Bovine PTPGRPDPLTLYHKGIASAK TYYRDEHIYPYMYLAGYHCRN
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 615 Menin
219 – 395 Interaction with FANCD2
324 – 324 Y -> A. Reduced interaction with KMT2A.
328 – 328 Y -> A. Reduced interaction with KMT2A.
303 – 317
Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.
Wautot V.; Vercherat C.; Lespinasse J.; Chambe B.; Lenoir G.M.; Zhang C.X.; Porchet N.; Cordier M.; Beroud C.; Calender A.;
Hum. Mutat. 20:35-47(2002)
Cited for: VARIANTS MEN1 TRP-39; ASP-42; LEU-98; PRO-165; THR-165; PHE-167; ASP-169; ARG-170; TYR-177; PRO-228; PHE-245; ARG-286; PRO-316; PRO-319; TYR-322; ARG-322; ASP-342; ARG-346; HIS-362; ASP-373; MET-377; ASN-423; CYS-532; ASN-560 AND ARG-560;
Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis.
Crepin M.; Escande F.; Pigny P.; Buisine M.-P.; Calender A.; Porchet N.; Odou M.-F.;
Cited for: VARIANTS MEN1 ARG-170; PRO-228; PHE-246; ARG-286; PRO-316; TYR-322; ASN-423 AND SER-545;
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.