UniProtKB/Swiss-Prot O75487: Variant p.Glu391Asp

Glypican-4
Gene: GPC4
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Variant information Variant position:

391 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 Glutamate (E) to Aspartate (D) at position 391 (E391D, p.Glu391Asp). 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
Other resources:

Links to websites of interest for the variant.

Variant rs1129980 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

EERPTTAAGTSLDRLVTDVK E KLKQAKKFWSSLPSNVCNDE 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                         EERPTTAAGTSLDRLVTDVKEKLKQAKKFWSSLPSNVCNDE

Mouse                         EQRPTTAAGTSLDRLVTDVKEKLKQAKKFWSSLPSTVCNDE

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	19 – 529	Glypican-4

Literature citations
GPC4, the gene for human K-glypican, flanks GPC3 on Xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome.
Veugelers M.; Vermeesch J.; Watanabe K.; Yamaguchi Y.; Marynen P.; David G.;
Genomics 53:1-11(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS ASP-391 AND VAL-442; Submission
Pilia G.; Mazzarella R.; Huber R.; Crisponi L.; Lindsay S.; Ireland M.; Cao A.; Schlessinger D.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ASP-391; Submission
Zhang B.; Feng Z.; Zhou Y.; Peng X.; Yuan J.; Qiang B.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS ASP-391 AND VAL-442; Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene.
Veugelers M.; Cat B.D.; Muyldermans S.Y.; Reekmans G.; Delande N.; Frints S.; Legius E.; Fryns J.-P.; Schrander-Stumpel C.; Weidle B.; Magdalena N.; David G.;
Hum. Mol. Genet. 9:1321-1328(2000)
Cited for: VARIANTS ASP-391 AND VAL-442;

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.