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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P25189: Variant p.Asp128Glu

Myelin protein P0
Gene: MPZ
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Variant information Variant position: help 128
Type of variant: help LP/P [Disclaimer]
Residue change: help From Aspartate (D) to Glutamate (E) at position 128 (D128E, p.Asp128Glu).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and acidic.
BLOSUM score: help 2
Variant description: help In CMT1B.


Sequence information Variant position: help 128
Protein sequence length: help 248
Location on the sequence: help KDGSIVIHNLDYSDNGTFTC D VKNPPDIVGKTSQVTLYVFE
Residue conservation: help 
Human                         KDGSIVIHNLDYSDNGTFTCDVKNPPDIVGKTSQVTLYVFE

Mouse                         KDGSIVIHNLDYSDNGTFTCDVKNPPDIVGKTSQVTLYVFE

Rat                           KDGSIVIHNLDYSDNGTFTCDVKNPPDIVGKTSQVTLYVFE

Bovine                        KDGSIVIHNLDYGDNGTFTCDVKNPPDIVGKTSQVTLYVFE

Horse                         KDGSIVIHNLDYSDNGTFTCDVKNPPDIVGKTSQVTLYVFE

Chicken                       KDGSIVIHNLDYTDNGTFTCDVKNPPDIVGKSSQVTLYVLE

Xenopus laevis                KDASIVVHNLELTDNGTFTCDVKNPPDVVGKSSYVHLQVQE

Xenopus tropicalis            KDASIVLHNLELIDNGTFTCDVKNPPDVVGKSSYVHLQVQE
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
Beta strand 123 – 130



Literature citations
Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.
Nelis E.; Haites N.; van Broeckhoven C.;
Hum. Mutat. 13:11-28(1999)
Cited for: VARIANT DSS TYR-127; VARIANTS CMT1B GLU-128 AND MET-143;
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.