UniProtKB/Swiss-Prot Q9BVK2: Variant p.Asn222Ser

Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase
Gene: ALG8
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Variant information Variant position:

222 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Asparagine (N) to Serine (S) at position 222 (N222S, p.Asn222Ser). 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 medium size and polar (N) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 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
Other resources:

Links to websites of interest for the variant.

Variant rs665278 [ dbSNP | Ensembl ]

Sequence information Variant position:

222 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

526 The length of the canonical sequence.
Location on the sequence:

YLYVAPAYGVYLLRSYCFTA N KPDGSIRWKSFSFVRVISLG 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                         YLYVAPAY-GVYLLRSYCFTANKPDGSIRWK-----------SFS---FVRVISLG

Mouse                         YLYVAPAY-GVYLLRSYCFTASKPDGSVRWS----------

Bovine                        YLYVAPAY-GVYLLRSYCFTANKQDGSIRWN----------

Caenorhabditis elegans        YVYYALGYVFYYLVNYFQFSGNVLLAN--------------

Drosophila                    FLYMAPAF-GVYLLRFYCLEQASVVSA--------------

Slime mold                    YMYMAPAF-FVYLLKYYCLKSNLNDNTTSKVNHSKQQQQQE

Baker's yeast                 FLYLAPCY-FVFLLRAYVLNVNNFKFKSYKD----------

Fission yeast                 FLYVAPAY-FVYLLRVYCFTPNFRPQ---------------

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 – 526	Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase

Literature citations
Characterization of 16 novel human genes showing high similarity to yeast sequences.
Stanchi F.; Bertocco E.; Toppo S.; Dioguardi R.; Simionati B.; Cannata N.; Zimbello R.; Lanfranchi G.; Valle G.;
Yeast 18:69-80(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT SER-222; Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency).
Schollen E.; Frank C.G.; Keldermans L.; Reyntjens R.; Grubenmann C.E.; Clayton P.T.; Winchester B.G.; Smeitink J.; Wevers R.A.; Aebi M.; Hennet T.; Matthijs G.;
J. Med. Genet. 41:550-556(2004)
Cited for: VARIANTS CDG1H PRO-47 AND ASP-275; VARIANT SER-222;

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.