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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P11717: Variant p.Thr1184Ser

Cation-independent mannose-6-phosphate receptor
Gene: IGF2R
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Variant information Variant position: help 1184
Type of variant: help LB/B
Residue change: help From Threonine (T) to Serine (S) at position 1184 (T1184S, p.Thr1184Ser).
Physico-chemical properties: help Change from medium size and polar (T) to small size and polar (S)
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 1184
Protein sequence length: help 2491
Location on the sequence: help NGSLSIMYVNGDKCGNQRFS T RITFECAQISGSPAFQLQDG
Residue conservation: help 
Human                         NGSLSIMYVNGDKCGNQRFSTRITFECAQISGSPAFQLQDG

Mouse                         NGSLSILYVNGDRCGDQRFSTRIVFECAQTSGSPMFQFVNN

Bovine                        NGSLSLVYVNGDKCKNQRFSTRINLECAHTTGSPTFQLQND
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 41 – 2491 Cation-independent mannose-6-phosphate receptor
Topological domain 41 – 2304 Lumenal
Domain 1082 – 1219 MRH 8
Glycosylation 1164 – 1164 N-linked (GlcNAc...) asparagine
Disulfide bond 1177 – 1205
Beta strand 1183 – 1190



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.