UniProtKB/Swiss-Prot O15111: Variant p.Val268Ile

Inhibitor of nuclear factor kappa-B kinase subunit alpha
Gene: CHUK
Feedback?

Variant information Variant position:

268 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 Valine (V) to Isoleucine (I) at position 268 (V268I, p.Val268Ile). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

3 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 rs2230804 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

MSGEVRFSSHLPQPNSLCSL V VEPMENWLQLMLNWDPQQRG 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                         MSGEVRFSSHLPQPNSLCSLVVEPMENWLQLMLNWDPQQRG

Mouse                         MTGEVRFSSHLPQPNSLCSLIVEPMESWLQLMLNWDPQQRG

Bovine                        MTGEVRFSSHLPQPNSLCSLIVEPMENWLQLMLNWDPQQRG

Chicken                       MNGEVRFSTHLPQPHSICSLIVEPMESWLQLMLNWDPEQRG

Xenopus laevis                MSGEIRFSTSLPEPNNLCSIIVDKIETWLQLLLNWDPVQRG

Xenopus tropicalis            MSGEIRFSSYLPQPNNLCSIIVDKIETWLQLLLNWDPIQRG

Zebrafish                     MNGEVRFSTHLPYPNNLSRTLLEPLEGLLQLMLKWDPVQRG

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 – 745	Inhibitor of nuclear factor kappa-B kinase subunit alpha
Domain	15 – 302	Protein kinase

Literature citations
Identification and characterization of an IkappaB kinase.
Regnier C.H.; Song H.Y.; Gao X.; Goeddel D.V.; Cao Z.; Rothe M.;
Cell 90:373-383(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; CATALYTIC ACTIVITY; MUTAGENESIS OF LYS-44; VARIANT ILE-268; A cytokine-responsive IkappaB kinase that activates the transcription factor NF-kappaB.
DiDonato J.A.; Hayakawa M.; Rothwarf D.M.; Zandi E.; Karin M.;
Nature 388:548-554(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; PARTIAL PROTEIN SEQUENCE; FUNCTION; CATALYTIC ACTIVITY; VARIANT ILE-268; IkappaB kinase-alpha and -beta genes are coexpressed in adult and embryonic tissues but localized to different human chromosomes.
Hu M.C.-T.; Wang Y.-P.;
Gene 222:31-40(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ILE-268; The DNA sequence and comparative analysis of human chromosome 10.
Deloukas P.; Earthrowl M.E.; Grafham D.V.; Rubenfield M.; French L.; Steward C.A.; Sims S.K.; Jones M.C.; Searle S.; Scott C.; Howe K.; Hunt S.E.; Andrews T.D.; Gilbert J.G.R.; Swarbreck D.; Ashurst J.L.; Taylor A.; Battles J.; Bird C.P.; Ainscough R.; Almeida J.P.; Ashwell R.I.S.; Ambrose K.D.; Babbage A.K.; Bagguley C.L.; Bailey J.; Banerjee R.; Bates K.; Beasley H.; Bray-Allen S.; Brown A.J.; Brown J.Y.; Burford D.C.; Burrill W.; Burton J.; Cahill P.; Camire D.; Carter N.P.; Chapman J.C.; Clark S.Y.; Clarke G.; Clee C.M.; Clegg S.; Corby N.; Coulson A.; Dhami P.; Dutta I.; Dunn M.; Faulkner L.; Frankish A.; Frankland J.A.; Garner P.; Garnett J.; Gribble S.; Griffiths C.; Grocock R.; Gustafson E.; Hammond S.; Harley J.L.; Hart E.; Heath P.D.; Ho T.P.; Hopkins B.; Horne J.; Howden P.J.; Huckle E.; Hynds C.; Johnson C.; Johnson D.; Kana A.; Kay M.; Kimberley A.M.; Kershaw J.K.; Kokkinaki M.; Laird G.K.; Lawlor S.; Lee H.M.; Leongamornlert D.A.; Laird G.; Lloyd C.; Lloyd D.M.; Loveland J.; Lovell J.; McLaren S.; McLay K.E.; McMurray A.; Mashreghi-Mohammadi M.; Matthews L.; Milne S.; Nickerson T.; Nguyen M.; Overton-Larty E.; Palmer S.A.; Pearce A.V.; Peck A.I.; Pelan S.; Phillimore B.; Porter K.; Rice C.M.; Rogosin A.; Ross M.T.; Sarafidou T.; Sehra H.K.; Shownkeen R.; Skuce C.D.; Smith M.; Standring L.; Sycamore N.; Tester J.; Thorpe A.; Torcasso W.; Tracey A.; Tromans A.; Tsolas J.; Wall M.; Walsh J.; Wang H.; Weinstock K.; West A.P.; Willey D.L.; Whitehead S.L.; Wilming L.; Wray P.W.; Young L.; Chen Y.; Lovering R.C.; Moschonas N.K.; Siebert R.; Fechtel K.; Bentley D.; Durbin R.M.; Hubbard T.; Doucette-Stamm L.; Beck S.; Smith D.R.; Rogers J.;
Nature 429:375-381(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT ILE-268; CHUK, a new member of the helix-loop-helix and leucine zipper families of interacting proteins, contains a serine-threonine kinase catalytic domain.
Connelly M.A.; Marcu K.B.;
Cell. Mol. Biol. Res. 41:537-549(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 32-745; VARIANT ILE-268; 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] CYS-126; ALA-155 AND ILE-268;

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.