UniProtKB/Swiss-Prot Q96EU7: Variant p.Asp131Glu

C1GALT1-specific chaperone 1
Gene: C1GALT1C1
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Variant information Variant position:

131 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 Aspartate (D) to Glutamate (E) at position 131 (D131E, p.Asp131Glu). 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:

Similar physico-chemical property. Both residues are medium size and acidic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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:

Retains capacity to promote Tn synthase activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs17261572 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

INMDTNDMWLMMRKAYKYAF D KYRDQYNWFFLARPTTFAII 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                         INMDTNDMWLMMRKAYKYAFDKYRDQYNWFFLARPTTFAII

Mouse                         INMDTNDMWLMMRKAYKYAYDQYRDQYNWFFLARPTTFAVI

Rat                           INMDTNDMWLMMRKAYKYAYDKYKDQYNWFFLARPTTFAVI

Bovine                        INMETNDMWLMMRKAYKYAFDKYRDQYNWFFLARPTTFAII

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 – 318	C1GALT1-specific chaperone 1
Topological domain	27 – 318	Lumenal

Literature citations
Protein glycosylation: chaperone mutation in Tn syndrome.
Ju T.; Cummings R.D.;
Nature 437:1252-1252(2005)
Cited for: VARIANT TNPS LYS-152; VARIANT GLU-131; CHARACTERIZATION OF VARIANT TNPS LYS-152; CHARACTERIZATION OF VARIANT GLU-131; New mutations in C1GALT1C1 in individuals with Tn positive phenotype.
Crew V.K.; Singleton B.K.; Green C.; Parsons S.F.; Daniels G.; Anstee D.J.;
Br. J. Haematol. 142:657-667(2008)
Cited for: VARIANTS GLU-131; VAL-143 AND HIS-222; VARIANTS TNPS LYS-152 AND PRO-193;

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.