UniProtKB/SwissProt variant VAR

Variant information

Variant position:

185

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

LP/P [Disclaimer]

The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Arginine (R) to Cysteine (C) at position 185 (R185C, p.Arg185Cys).

Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:

Change from large size and basic (R) to medium size and polar (C)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-3

The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page

Variant description:

In MDDGB14; the protein remains distributed in the cytoplasm and has no discernable changes compared to wild-type.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs397509425 [ dbSNP | Ensembl ]

Sequence information

Variant position:

185

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

360

The length of the canonical sequence.

Location on the sequence:

VFVSNKINAGMYILSPAVLQ R IQLQPTSIEKEVFPIMAKEG

The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         VFVSNKINAGMYILSPAVLQRIQLQPTSIEKEVFPIMAKEG

Mouse                         VFVSNKINAGMYILSPAVLQRIQLKPTSIEKEIFPVMAKEG

Pig                           VFVSNKINAGMYILSPAVLQRIQLQPTSIEKEIFPVMAKEG

Bovine                        VFVSNKINAGVYILSPSVLRRIQLQPTSIEKEIFPVMAKEG

Xenopus tropicalis            VFVSNKINSGLYIFSPAVLDRIQLRPTSIEKEIFPAMAQEG

Zebrafish                     VFVSNKINAGMYIFSPAMLRRIQLRPTSIEKEIFPVMAEEG

Caenorhabditis elegans        EYVGNKINAGLYIFSSKILDRIPLKPTSIEKEIFPEMAFSG

Drosophila                    EFVSNKINAGIYIFNPSVLDRIEVKPTSIEKEVFPEMTQQQ

Slime mold                    VYVGNKINAGVYIFNPTILDRIQPKPTSIEKEIFPAMAADS

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	1 – 360	Mannose-1-phosphate guanyltransferase beta

Literature citations

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of alpha-dystroglycan.
Carss K.J.; Stevens E.; Foley A.R.; Cirak S.; Riemersma M.; Torelli S.; Hoischen A.; Willer T.; van Scherpenzeel M.; Moore S.A.; Messina S.; Bertini E.; Boennemann C.G.; Abdenur J.E.; Grosmann C.M.; Kesari A.; Punetha J.; Quinlivan R.; Waddell L.B.; Young H.K.; Wraige E.; Yau S.; Brodd L.; Feng L.; Sewry C.; MacArthur D.G.; North K.N.; Hoffman E.; Stemple D.L.; Hurles M.E.; van Bokhoven H.; Campbell K.P.; Lefeber D.J.; Lin Y.Y.; Muntoni F.;
Am. J. Hum. Genet. 93:29-41(2013)
Cited for: SUBCELLULAR LOCATION; VARIANT MDDGA14 ASN-334; VARIANTS MDDGB14 LEU-32; CYS-185 AND GLN-287; VARIANTS MDDGC14 SER-22; HIS-27 AND ILE-330; CHARACTERIZATION OF VARIANT MDDGA14 ASN-334; CHARACTERIZATION OF VARIANTS MDDGB14 LEU-32; CYS-185 AND GLN-287; CHARACTERIZATION OF VARIANTS MDDGC14 SER-22; HIS-27 AND ILE-330;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y5P6: Variant p.Arg185Cys