Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60762: Variant p.Arg92Gly

Dolichol-phosphate mannosyltransferase subunit 1
Gene: DPM1
Feedback?
Variant information Variant position: help 92
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Glycine (G) at position 92 (R92G, p.Arg92Gly).
Physico-chemical properties: help Change from large size and basic (R) to glycine (G)
BLOSUM score: help -2
Variant description: help In CDG1E.
Other resources: help


Sequence information Variant position: help 92
Protein sequence length: help 260
Location on the sequence: help RDVAEQLEKIYGSDRILLRP R EKKLGLGTAYIHGMKHATGN
Residue conservation: help 
Human                         RDVAEQLEKIYGSDRILLRPREKKLGLGTAYIHGMKHATGN

Mouse                         REVAEQLAEIYGPDRILLRPREKKLGLGTAYIHGIKHATGN

Pig                           RDIAEQLVKIYGSDKILLRPREKKLGLGTAYIHGMKHATGN

Bovine                        RDVAEQLEKIYGSDRILLRPREKKLGLGTAYIHGMKHATGN

Drosophila                    LDVAKDLQKIYGEDKIVLRPRGSKLGLGTAYIHGIKHATGD

Slime mold                    LEVAQQLQKIYGEEKIKILSRPGKMGLGSAYMDGIKKSTGN

Baker's yeast                 VEEVDALAHQGYNVRIIVRTNER--GLSSAVLKGFYEAKGQ

Fission yeast                 QEVAKELQKIYGEDKILLKPRSGKLGLGTAYIHGLKFATGD
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 260 Dolichol-phosphate mannosyltransferase subunit 1



Literature citations
Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie).
Kim S.; Westphal V.; Srikrishna G.; Mehta D.P.; Peterson S.; Filiano J.; Karnes P.S.; Patterson M.C.; Freeze H.H.;
J. Clin. Invest. 105:191-198(2000)
Cited for: VARIANT CDG1E GLY-92; Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.
Imbach T.; Schenk B.; Schollen E.; Burda P.; Stutz A.; Gruenewald S.; Bailie N.M.; King M.D.; Jaeken J.; Matthijs G.; Berger E.G.; Aebi M.; Hennet T.;
J. Clin. Invest. 105:233-239(2000)
Cited for: VARIANT CDG1E GLY-92;
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.