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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P25189: Variant p.Gly110Asp

Myelin protein P0
Gene: MPZ
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Variant information Variant position: help 110
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Aspartate (D) at position 110 (G110D, p.Gly110Asp).
Physico-chemical properties: help Change from glycine (G) to medium size and acidic (D)
BLOSUM score: help -1
Variant description: help In DSS.


Sequence information Variant position: help 110
Protein sequence length: help 248
Location on the sequence: help DEVGTFKERIQWVGDPRWKD G SIVIHNLDYSDNGTFTCDVK
Residue conservation: help 
Human                         DEVGTFKERIQWVGDPRWKDGSIVIHNLDYSDNGTFTCDVK

Mouse                         DEVGAFKERIQWVGDPRWKDGSIVIHNLDYSDNGTFTCDVK

Rat                           DEVGTFKERIQWVGDPSWKDGSIVIHNLDYSDNGTFTCDVK

Bovine                        DEVGTFKERIQWVGDPHRKDGSIVIHNLDYGDNGTFTCDVK

Horse                         DEVGTFKERIQWVGDPQWKDGSIVIHNLDYSDNGTFTCDVK

Chicken                       DDVGSFKERMEWVGNPRRKDGSIVIHNLDYTDNGTFTCDVK

Xenopus laevis                D-AGIFKDRIEWVGSPKWKDASIVVHNLELTDNGTFTCDVK

Xenopus tropicalis            D-AGVFKDRIEWVGSPKWKDASIVLHNLELIDNGTFTCDVK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 30 – 248 Myelin protein P0
Topological domain 30 – 153 Extracellular
Domain 30 – 143 Ig-like V-type
Glycosylation 122 – 122 N-linked (GlcNAc...) (complex) asparagine
Disulfide bond 50 – 127



Literature citations
Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
Huehne K.; Benes V.; Thiel C.; Kraus C.; Kress W.; Hoeltzenbein M.; Ploner C.J.; Kotzian J.; Reis A.; Rott H.D.; Rautenstrauss B.W.;
Hum. Mutat. 21:100-100(2003)
Cited for: VARIANT CMT1B LEU-78; VARIANT DSS ASP-110;
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.