UniProtKB/Swiss-Prot P18827: Variant p.Leu136Gln

Syndecan-1
Gene: SDC1
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Variant information Variant position:

136 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 Leucine (L) to Glutamine (Q) at position 136 (L136Q, p.Leu136Gln). 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 hydrophobic (L) to medium size and polar (Q) 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 rs10205485 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

AREQEATPRPRETTQLPTTH L ASTTTATTAQEPATSHPHRD 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                         AR--EQEA-----------------------TPRPRETTQLPTTHLAST-TTATTAQEPATSHPHR----------------------------D

Mouse                         ARDKEKEV-----------------------TTRPRETVQL

Rat                           ARDKEKEA-----------------------TTRPRETTQL

Bovine                        A---QKEA-----------------------THPPSETTLH

Caenorhabditis elegans        EVQDEQDAILFGDYRAVLRSKGIMVNSISDFVAPPDELAKA

Baker's yeast                 -----------------------------------------

Fission yeast                 -----------------------------------------

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	23 – 310	Syndecan-1
Topological domain	23 – 254	Extracellular
Region	114 – 212	Disordered
Compositional bias	125 – 151	Polar residues

Literature citations
Differential expression of cell surface heparan sulfate proteoglycans in human mammary epithelial cells and lung fibroblasts.
Lories V.; Cassiman J.-J.; van de Berghe H.; David G.;
J. Biol. Chem. 267:1116-1122(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT GLN-136; Sequence of human syndecan indicates a novel gene family of integral membrane proteoglycans.
Mali M.; Jaakkola P.; Arvilommi A.-M.; Jalkanen M.;
J. Biol. Chem. 265:6884-6889(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT GLN-136; Shift of syndecan-1 expression from epithelial to stromal cells during progression of solid tumours.
Mennerich D.; Vogel A.; Klaman I.; Dahl E.; Lichtner R.B.; Rosenthal A.; Pohlenz H.D.; Thierauch K.H.; Sommer A.;
Eur. J. Cancer 40:1373-1382(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT GLN-136; Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT GLN-136; 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]; VARIANT GLN-136; The mapping and visual ordering of the human syndecan-1 and N-myc genes near the telomeric region of chromosome 2p.
Kaukonen J.; Alanen-Kurki L.; Jalkanen M.; Palotie A.;
Hum. Genet. 99:295-297(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 23-310; VARIANT GLN-136;

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.