UniProtKB/Swiss-Prot P05305: Variant p.Lys198Asn

Endothelin-1
Gene: EDN1
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Variant information Variant position:

198 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 Lysine (K) to Asparagine (N) at position 198 (K198N, p.Lys198Asn). 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 large size and basic (K) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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
Variant description:

May be correlated with HDL cholesterol levels is some populations and in a sex-specific manner. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs5370 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

RSETMRNSVKSSFHDPKLKG K PSRERYVTHNRAHW 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                         RSETMRNSVKSSFHDPKLKGKPSRERYVTHNRAHW

                              RLDAISNSIKTAFRVAKLKAELYRENKVTHNRTH-

Mouse                         RLEAISNSIKASFRVAKLKAELYRDQKLTHNRAH-

Rat                           RLEAISNSIKTSFRVAKLKAELYRDQKLIHNRAH-

Pig                           RLEAISNSIKTSFHIAKLKAELYRDKKVTHNRTH-

Bovine                        RLEAISNSIKTSFRVAKLKAQLYRDKKVIYNRAH-

Rabbit                        RLEAISNSIKTSFHAAQLRAQLHREQKVTHNRTH-

Sheep                         RLETISNSIKTSFRVAKLKAQLYRDKKVIYSRAH-

Cat                           RLDAVRNSIKTAFRVAKLKAEIYREKKVTHNRTH-

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
Propeptide	74 – 212
Region	168 – 212	Disordered

Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ASN-198; 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 ASN-198; Genetic analysis of 103 candidate genes for coronary artery disease and associated phenotypes in a founder population reveals a new association between endothelin-1 and high-density lipoprotein cholesterol.
Pare G.; Serre D.; Brisson D.; Anand S.S.; Montpetit A.; Tremblay G.; Engert J.C.; Hudson T.J.; Gaudet D.;
Am. J. Hum. Genet. 80:673-682(2007)
Cited for: VARIANT ASN-198; CHARACTERIZATION OF VARIANT ASN-198; Investigating the association between K198N coding polymorphism in EDN1 and hypertension, lipoprotein levels, the metabolic syndrome and cardiovascular disease.
Wiltshire S.; Powell B.L.; Jennens M.; McCaskie P.A.; Carter K.W.; Palmer L.J.; Thompson P.L.; McQuillan B.M.; Hung J.; Beilby J.P.;
Hum. Genet. 123:307-313(2008)
Cited for: VARIANT ASN-198; The Lys198Asn polymorphism in the endothelin-1 gene is associated with blood pressure in overweight people.
Tiret L.; Poirier O.; Hallet V.; McDonagh T.A.; Morrison C.; McMurray J.J.; Dargie H.J.; Arveiler D.; Ruidavets J.B.; Luc G.; Evans A.; Cambien F.;
Hypertension 33:1169-1174(1999)
Cited for: VARIANT ASN-198; Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis.
Halushka M.K.; Fan J.-B.; Bentley K.; Hsie L.; Shen N.; Weder A.; Cooper R.; Lipshutz R.; Chakravarti A.;
Nat. Genet. 22:239-247(1999)
Cited for: VARIANT ASN-198;

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.