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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P25189: Variant p.Ser54Pro

Myelin protein P0
Gene: MPZ
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Variant information Variant position: help 54
Type of variant: help LP/P [Disclaimer]
Residue change: help From Serine (S) to Proline (P) at position 54 (S54P, p.Ser54Pro).
Physico-chemical properties: help Change from small size and polar (S) to medium size and hydrophobic (P)
BLOSUM score: help -1
Variant description: help In CMT1B.


Sequence information Variant position: help 54
Protein sequence length: help 248
Location on the sequence: help TDREVHGAVGSRVTLHCSFW S SEWVSDDISFTWRYQPEGGR
Residue conservation: help
Human                         TDREVHGAVGSRVTLHCSFWSSEWVSDDISFTWRYQPEGGR

Mouse                         TDREIYGAVGSQVTLHCSFWSSEWVSDDISFTWRYQPEGGR

Rat                           TDREVYGAVGSQVTLHCSFWSSEWVSDDISFTWRYQPEGGR

Bovine                        TDKEVHGAVGSQVTLYCSFWSSEWVSDDLSFTWRYQPEGGR

Horse                         TDKEVYGAVGSRVTLHCSFWSSEWVSDDISFTWRYQPEGGR

Chicken                       TPREVYGTVGSHVTLSCSFWSSEWISEDISYTWHFQAEGSR

Xenopus laevis                TDREVYGTAGSRVTLSCSFWSSEWISDDISVTWHYQPDHSR

Xenopus tropicalis            TDREVYGTVGSRVTLSCSFWSSEWISDDVSVTWHYQPDHSR

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 30 – 248 Myelin protein P0
Topological domain 30 – 153 Extracellular
Domain 30 – 143 Ig-like V-type
Disulfide bond 50 – 127



Literature citations
Novel mutations of the myelin P0 gene in two Charcot-Marie-Tooth type 1 patients from Turkey.
Bissar-Tadmouri N.; Latour P.; Gulsen-Parman Y.; Deymeer F.; Serdaroglu P.; Ozdemir C.; Vandenberghe A.;
Cited for: VARIANT CMT1B PRO-54;
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.