UniProtKB/SwissProt variant VAR

Variant information

Variant position:

556

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 Serine (S) to Proline (P) at position 556 (S556P, p.Ser556Pro).

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 polar (S) to medium size and hydrophobic (P)

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 rs2250718 [ dbSNP | Ensembl ]

Sequence information

Variant position:

556

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

Protein sequence length:

815

The length of the canonical sequence.

Location on the sequence:

TPITQGHTDELWGLAIHASK S QFLTCGHDKHATLWDAVGHR

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                         TPITQGHTDELWGLAIHASKSQFLTCGHDKHATLWDAVGHR

Mouse                         TPITQGHTDELWGLAIHASKPQFLTCGHDKHATLWDAVGHR

Rat                           TPITQGHTDELWGLAIHASKPQFLTCGHDKHATLWDAVGHR

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 – 815	Echinoderm microtubule-associated protein-like 1
Repeat	535 – 572	WD 7
Region	176 – 815	Tandem atypical propeller in EMLs
Mutagenesis	547 – 547	W -> A. Abolishes tubulin binding; when associated with S-192; S-194; T-626; S-627; A-646 and A-786.
Beta strand	553 – 562

Literature citations

Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type 1a locus at 14q32.
Eudy J.D.; Ma-Edmonds M.; Yao S.F.; Talmadge C.B.; Kelley P.M.; Weston M.D.; Kimberling W.J.; Sumegi J.;
Genomics 43:104-106(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT PRO-556;

Complete exon-intron structure of human homologue of the gene coding the echinoderm microtubule-associated protein (EMAP).
Gerber S.; Sumegi J.; Rozet J.-M.; Perrault I.; Ducroq D.; Munnich A.; Kaplan J.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT PRO-556;

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANTS ASN-552 AND PRO-556;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O00423: Variant p.Ser556Pro