UniProtKB/SwissProt variant VAR

Inhibitor of nuclear factor kappa-B kinase subunit beta
Gene: IKBKB
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Variant information Variant position:

710
Type of variant:

LB/B
Residue change:

From Alanine (A) to Threonine (T) at position 710 (A710T, p.Ala710Thr).
Physico-chemical properties:

Change from small size and hydrophobic (A) to medium size and polar (T)
BLOSUM score:

0
Other resources:

Variant rs34309584 [ dbSNP | Ensembl ]

Sequence information Variant position:

710
Protein sequence length:

756
Location on the sequence:

QPSTASNSLPEPAKKSEELV A EAHNLCTLLENAIQDTVREQ
Residue conservation:

Human                         QPSTASNSLPEPAKKSEELVAEAHNLCTLLENAIQDTVREQ

Mouse                         QPSSACDSLPESDKKSEELVAEAHALCSRLESALQDTVKEQ

Rat                           QPSSACDSLPDSDKKSEELVAEAHALCSRLESALQDTVKQQ

Bovine                        QPCTAPDSLPEAAEKSEDLVAEAHTLCTQLENALQDTMKEQ

Drosophila                    ISSGSPSSDPFDSLRTINAIEEAE----RINNILVNEMKID

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 756	Inhibitor of nuclear factor kappa-B kinase subunit beta
Modified residue	692 – 692	Phosphoserine; by autocatalysis
Modified residue	695 – 695	Phosphoserine; by autocatalysis
Modified residue	697 – 697	Phosphoserine; by autocatalysis
Modified residue	705 – 705	Phosphoserine; by autocatalysis
Alternative sequence	257 – 756	Missing. In isoform 3.
Mutagenesis	272 – 756	Missing. Loss of activation of NF-kappa-B signaling.
Helix	706 – 729

Literature citations
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] SER-360; ARG-369; GLN-526; THR-710 AND LEU-734;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O14920: Variant p.Ala710Thr