UniProtKB/Swiss-Prot P35228: Variant p.Ser608Leu

Nitric oxide synthase, inducible
Gene: NOS2
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Variant information Variant position:

608 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 Leucine (L) at position 608 (S608L, p.Ser608Leu). 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 (L) 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
Polymorphism:

Genetic variations in NOS2 are involved in resistance to malaria [MIM:611162]. Additional information on the polymorphism described.
Variant description:

Found in patients with very early onset inflammatory bowel disease; increases NOS2 activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs2297518 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1153 The length of the canonical sequence.
Location on the sequence:

VVTSTFGNGDCPGNGEKLKK S LFMLKELNNKFRYAVFGLGS 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                         VVTSTFGNGDCPGNGEKLKKSLFMLKELNNKFRYAVFGLGS

                              VVTSTFGNGDSPGNGEKLKKSLFMLKELTNKFRYAVFGLGS

Mouse                         VVTSTFGNGDCPSNGQTLKKSLFMLRELNHTFRYAVFGLGS

Rat                           VVTSTFGNGDCPSNGQTLKKSLFMMKELGHTFRYAVFGLGS

Pig                           VVTSTFGNGGSPGNGEKLKKSLFMLKELTNKFRYAVFGLGS

Bovine                        VVTSTFGNGDSPGNGEKLKKSLLMLKELTNTFRYAVFGLGS

Goat                          VVTSTFGNGDSPGNGEKLKKSLLMLKELTNKFRYAVFGLGS

Chicken                       VVTSTFGNGDSPNNGKTLKNSLLTLKLLRKNIRYAVFGLGS

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 – 1153	Nitric oxide synthase, inducible
Domain	539 – 677	Flavodoxin-like
Binding site	591 – 591
Binding site	592 – 592
Binding site	628 – 628
Helix	603 – 611

Literature citations
Human retina expresses both constitutive and inducible isoforms of nitric oxide synthase mRNA.
Park C.S.; Pardhasaradhi K.; Gianotti C.; Villegas E.; Krishna G.;
Biochem. Biophys. Res. Commun. 205:85-91(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT LEU-608; FUNCTION; Cloning and functional expression of human inducible nitric oxide synthase (NOS) cDNA from a glioblastoma cell line A-172.
Hokari A.; Zeniya M.; Esumi H.;
J. Biochem. 116:575-581(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT LEU-608; Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS TRP-221; LEU-608; ALA-747 AND CYS-1009; Higher activity of the inducible nitric oxide synthase contributes to very early onset inflammatory bowel disease.
Dhillon S.S.; Mastropaolo L.A.; Murchie R.; Griffiths C.; Thoeni C.; Elkadri A.; Xu W.; Mack A.; Walters T.; Guo C.; Mack D.; Huynh H.; Baksh S.; Silverberg M.S.; Brumell J.H.; Snapper S.B.; Muise A.M.;
Clin. Transl. Gastroenterol. 5:E46-E46(2014)
Cited for: VARIANT LEU-608; CHARACTERIZATION OF VARIANT LEU-608;

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.