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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O15305: Variant p.Asn216Ile

Phosphomannomutase 2
Gene: PMM2
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Variant information Variant position: help 216
Type of variant: help LP/P [Disclaimer]
Residue change: help From Asparagine (N) to Isoleucine (I) at position 216 (N216I, p.Asn216Ile).
Physico-chemical properties: help Change from medium size and polar (N) to medium size and hydrophobic (I)
BLOSUM score: help -3
Variant description: help In CDG1A.
Other resources: help


Sequence information Variant position: help 216
Protein sequence length: help 246
Location on the sequence: help VENDGYKTIYFFGDKTMPGG N DHEIFTDPRTMGYSVTAPED
Residue conservation: help 
Human                         VENDGYKTIYFFGDKTMPGGNDHEIFTDPR-TMGYSVTAPED

Mouse                         LEHAGYKTIYFFGDKTMPGGNDHEIFTDPR-TVGYTVTAPE

Bovine                        VEKDGYKTIYFFGDKTMPGGNDHEIFTDPR-TVGYTVAAPE

Slime mold                    LPEDEFKTLYFFGDKTFLGGNDYEIANHPRITQSFTVKSPA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 246 Phosphomannomutase 2
Binding site 209 – 209
Binding site 221 – 221
Binding site 223 – 223
Binding site 226 – 226
Alternative sequence 120 – 246 Missing. In isoform 2.



Literature citations
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).
Matthijs G.; Schollen E.; Bjursell C.; Erlandson A.; Freeze H.; Imtiaz F.; Kjaergaard S.; Martinsson T.; Schwartz M.; Seta N.; Vuillaumier-Barrot S.; Westphal V.; Winchester B.;
Hum. Mutat. 16:386-394(2000)
Cited for: VARIANTS CDG1A TYR-9; CYS-11; ARG-32; ALA-44; TYR-65; MET-67; SER-69; CYS-76; LYS-101; PHE-103; CYS-106; VAL-108; LEU-113; ARG-117; LEU-119; THR-120; GLN-123; MET-129; ALA-131; ASN-132; THR-132; LYS-139; HIS-141; ASN-148; GLY-151; THR-153; SER-157; TRP-162; VAL-172; ARG-175; SER-183; GLY-185; GLY-188; GLY-192; ARG-195; SER-206; ALA-208; ILE-216; SER-216; GLU-217; LEU-218; GLU-223; SER-226; ARG-228; CYS-228; SER-229; MET-231; THR-233; ARG-237; MET-237; GLY-238 AND SER-241; VARIANT ALA-197;
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.