UniProtKB/SwissProt variant VAR

Myelin protein P0
Gene: MPZ
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Variant information Variant position:

81
Type of variant:

LP/P [Disclaimer]
Residue change:

From Histidine (H) to Arginine (R) at position 81 (H81R, p.His81Arg).
Physico-chemical properties:

Change from medium size and polar (H) to large size and basic (R)
BLOSUM score:

0
Variant description:

In CMT1B and CMT2I; severe; reduces intercellular adhesion; does not affect targeting to the cell membrane.
Other resources:

Variant rs121913594 [ dbSNP | Ensembl ]

Sequence information Variant position:

81
Protein sequence length:

248
Location on the sequence:

DISFTWRYQPEGGRDAISIF H YAKGQPYIDEVGTFKERIQW
Residue conservation:

Human                         DISFTWRYQPEGGRDAISIFHYAKGQPYIDEVGTFKERIQW

Mouse                         DISFTWRYQPEGGRDAISIFHYAKGQPYIDEVGAFKERIQW

Rat                           DISFTWRYQPEGGRDAISIFHYAKGQPYIDEVGTFKERIQW

Bovine                        DLSFTWRYQPEGGRDAISIFHYAKGQPYIDEVGTFKERIQW

Horse                         DISFTWRYQPEGGRDAISIFHYAKGQPYIDEVGTFKERIQW

Chicken                       DISYTWHFQAEGSRDSISIFHYGKGQPYIDDVGSFKERMEW

Xenopus laevis                DISVTWHYQPDHSREMYSIVHFAKGLSSID-AGIFKDRIEW

Xenopus tropicalis            DVSVTWHYQPDHSREMYSIFHYAKGQPSID-AGVFKDRIEW

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	30 – 248	Myelin protein P0
Topological domain	30 – 153	Extracellular
Domain	30 – 143	Ig-like V-type
Disulfide bond	50 – 127
Beta strand	77 – 83

Literature citations
Novel mutation of the myelin P0 gene in a CMT1B family.
Sorour E.; Macmillan J.; Upadhyaya M.;
Hum. Mutat. 9:74-77(1997)
Cited for: VARIANT CMT1B ARG-81; Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.
Hattori N.; Yamamoto M.; Yoshihara T.; Koike H.; Nakagawa M.; Yoshikawa H.; Ohnishi A.; Hayasaka K.; Onodera O.; Baba M.; Yasuda H.; Saito T.; Nakashima K.; Kira J.; Kaji R.; Oka N.; Sobue G.;
Brain 126:134-151(2003)
Cited for: VARIANTS CMT1B TYR-35; PHE-62; SER-63 DEL; CYS-68; GLU-93; CYS-98 AND PHE-146; VARIANTS CMT2I VAL-75; ARG-81; MET-124; ARG-130 AND ARG-167; Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations.
Grandis M.; Vigo T.; Passalacqua M.; Jain M.; Scazzola S.; La Padula V.; Brucal M.; Benvenuto F.; Nobbio L.; Cadoni A.; Mancardi G.L.; Kamholz J.; Shy M.E.; Schenone A.;
Hum. Mol. Genet. 17:1877-1889(2008)
Cited for: CHARACTERIZATION OF VARIANTS CMT1B 51-SER--TRP-57 DEL; PRO-39; ARG-81 AND MET-124; FUNCTION; SUBCELLULAR LOCATION;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P25189: Variant p.His81Arg