UniProtKB/SwissProt variant VAR

Protein O-mannosyl-transferase 2
Gene: POMT2
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Variant information Variant position:

413
Type of variant:

LP/P [Disclaimer]
Residue change:

From Arginine (R) to Proline (P) at position 413 (R413P, p.Arg413Pro).
Physico-chemical properties:

Change from large size and basic (R) to medium size and hydrophobic (P)
BLOSUM score:

-2
Variant description:

In MDDGA2.
Other resources:

Variant rs190285831 [ dbSNP | Ensembl ]

Sequence information Variant position:

413
Protein sequence length:

750
Location on the sequence:

NSDPLDPSFPVEFVRHGDII R LEHKETSRNLHSHYHEAPMT
Residue conservation:

Human                         NSDPLDPSFPVEFVRHGDIIRLEHKETSRNLHSHYHEAPMT

Mouse                         NTDPLDPSFPVEFVRHGDIIRLEHKETTRNLHSHYHEAPLT

Zebrafish                     --NSDDLTGSPELVRHGDIIRLEHKETTRNLHSHFHEAPLT

Drosophila                    --KPGPPKGKVQILRHGDLVRLTHMATRRNLHSHNEPAPMT

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 750	Protein O-mannosyl-transferase 2
Domain	403 – 459	MIR 2
Alternative sequence	83 – 750	Missing. In isoform 2.

Literature citations
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Godfrey C.; Clement E.; Mein R.; Brockington M.; Smith J.; Talim B.; Straub V.; Robb S.; Quinlivan R.; Feng L.; Jimenez-Mallebrera C.; Mercuri E.; Manzur A.Y.; Kinali M.; Torelli S.; Brown S.C.; Sewry C.A.; Bushby K.; Topaloglu H.; North K.; Abbs S.; Muntoni F.;
Brain 130:2725-2735(2007)
Cited for: VARIANTS MDDGA2 ASN-198; PHE-373; PRO-413 AND CYS-666; VARIANTS MDDGC2 MET-184 AND SER-748;

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 Q9UKY4: Variant p.Arg413Pro