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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P11717: Variant p.Arg91His

Cation-independent mannose-6-phosphate receptor
Gene: IGF2R
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Variant information Variant position: help 91
Type of variant: help LB/B
Residue change: help From Arginine (R) to Histidine (H) at position 91 (R91H, p.Arg91His).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (H)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 91
Protein sequence length: help 2491
Location on the sequence: help SVDIVQCGPSSAVCMHDLKT R TYHSVGDSVLRSATRSLLEF
Residue conservation: help 
Human                         SVDIVQCGPSSAVCMHDLKTRTYHSVGDSVLRSATRSLLEF

Mouse                         NVGISSCGPTSAICMCDLKTENCRSVGDSLLRSSARSLLEF

Bovine                        NMGVAQCGPSSAVCMHDLKTDSFHSVGDSLLKTASRSLLEF
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 41 – 2491 Cation-independent mannose-6-phosphate receptor
Topological domain 41 – 2304 Lumenal
Domain 47 – 163 MRH 1
Turn 88 – 91



Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HIS-91; LEU-203; ASP-231; VAL-252; GLY-273; GLN-512; SER-604; THR-724; VAL-817; SER-856; MET-1107; ILE-1124; SER-1184; GLU-1315; HIS-1335; GLY-1619; HIS-1832; ASP-1860; MET-1908; SER-2020 AND VAL-2459;
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.