UniProtKB/Swiss-Prot Q99102: Variant p.Ala4821Ser

Mucin-4
Gene: MUC4
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Variant information Variant position:

4821 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 Alanine (A) to Serine (S) at position 4821 (A4821S, p.Ala4821Ser). 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 small size and hydrophobic (A) 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
Polymorphism:

The variable number of tandem repeats (VNTR) region, an array of serine- and threonine-rich tandem repeats, is encoded by a single exon (exon 2) which is highly polymorphic. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs2246901 [ dbSNP | Ensembl ]

Sequence information Variant position:

4821 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

5412 The length of the canonical sequence.
Location on the sequence:

SASFDGWATVSVIALSNILH A SASLPPEYQNRTEGLLGVWN 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                         SASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWN

Mouse                         SANFDGTVTISVIARSNILHASSSLSEEYRNHTEGLLGVWN

Rat                           SANFDGTVTISVIALSNILHASSSLSEEYRNHTKGLLGVWN

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	29 – 5412	Mucin-4
Chain	4688 – 5412	Mucin-4 beta chain
Domain	4680 – 4880	VWFD
Glycosylation	4831 – 4831	N-linked (GlcNAc...) asparagine
Alternative sequence	4351 – 5412	Missing. In isoform 9.
Alternative sequence	4401 – 5412	Missing. In isoform 2.
Alternative sequence	4421 – 5412	Missing. In isoform 15.
Alternative sequence	4431 – 5412	Missing. In isoform 11.
Alternative sequence	4443 – 5412	Missing. In isoform 8.
Alternative sequence	4445 – 5412	Missing. In isoform 7.
Alternative sequence	4511 – 5412	Missing. In isoform 5.
Alternative sequence	4597 – 4822	Missing. In isoform 17.
Alternative sequence	4628 – 5412	Missing. In isoform 16.

Literature citations
Cloning, chromosomal localization and characterization of the murine mucin gene orthologous to human MUC4.
Desseyn J.-L.; Clavereau I.; Laine A.;
Eur. J. Biochem. 269:3150-3159(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS PRO-41; ASP-4324 AND SER-4821;

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.