UniProtKB/Swiss-Prot P34925: Variant p.Ser99Asn

Tyrosine-protein kinase RYK
Gene: RYK
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Variant information Variant position:

99 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 Asparagine (N) at position 99 (S99N, p.Ser99Asn). 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 polar (N) 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 rs1131262 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LDAELYYVRNDLISHYALSF S LLVPSETNFLHFTWHAKSKV 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                         LDAELYYVRNDLISHYALSFSLLVPSETNFLHFTWHAKSKV

Mouse                         LDAELYYVRNDLISHYALSFNLLVPSETNFLHFTWHAKSKV

Caenorhabditis elegans        VKAELNYIEMGNVSSYSTKFHYRVMANIDYLSFTWNAVGIV

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	26 – 607	Tyrosine-protein kinase RYK
Topological domain	26 – 227	Extracellular
Domain	66 – 194	WIF

Literature citations
Molecular cloning and chromosomal localisation of the human homologue of a receptor related to tyrosine kinases (RYK).
Stacker S.A.; Hovens C.M.; Vitali A.; Pritchard M.A.; Baker E.; Sutherland G.R.; Wilks A.F.;
Oncogene 8:1347-1356(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ASN-99; The human ryk cDNA sequence predicts a protein containing two putative transmembrane segments and a tyrosine kinase catalytic domain.
Tamagnone L.; Partanen J.; Armstrong E.; Lasota J.; Ohgami K.; Tazunoki T.; Laforgia S.; Huebner K.; Alitalo K.;
Oncogene 8:2009-2014(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2); VARIANT ASN-99; H-RYK, an unusual receptor kinase: isolation and analysis of expression in ovarian cancer.
Wang X.C.; Katso R.; Butler R.; Hanby A.M.; Poulsom R.; Jones T.; Sheer D.; Ganesan T.S.;
Mol. Med. 2:189-203(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 46-607 (ISOFORM 1); VARIANT ASN-99; Patterns of somatic mutation in human cancer genomes.
Greenman C.; Stephens P.; Smith R.; Dalgliesh G.L.; Hunter C.; Bignell G.; Davies H.; Teague J.; Butler A.; Stevens C.; Edkins S.; O'Meara S.; Vastrik I.; Schmidt E.E.; Avis T.; Barthorpe S.; Bhamra G.; Buck G.; Choudhury B.; Clements J.; Cole J.; Dicks E.; Forbes S.; Gray K.; Halliday K.; Harrison R.; Hills K.; Hinton J.; Jenkinson A.; Jones D.; Menzies A.; Mironenko T.; Perry J.; Raine K.; Richardson D.; Shepherd R.; Small A.; Tofts C.; Varian J.; Webb T.; West S.; Widaa S.; Yates A.; Cahill D.P.; Louis D.N.; Goldstraw P.; Nicholson A.G.; Brasseur F.; Looijenga L.; Weber B.L.; Chiew Y.-E.; DeFazio A.; Greaves M.F.; Green A.R.; Campbell P.; Birney E.; Easton D.F.; Chenevix-Trench G.; Tan M.-H.; Khoo S.K.; Teh B.T.; Yuen S.T.; Leung S.Y.; Wooster R.; Futreal P.A.; Stratton M.R.;
Nature 446:153-158(2007)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] ASN-99; CYS-227 AND ILE-243;

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.