UniProtKB/Swiss-Prot P00751 : Variant p.Lys565Glu
Complement factor B
Gene: CFB
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Variant information
Variant position:
565
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 Glutamate (E) at position 565 (K565E, p.Lys565Glu).
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 acidic (E)
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
Polymorphism:
Two major variants, F and S, and 2 minor variants, as well as at least 14 very rare variants, have been identified.
Additional information on the polymorphism described.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
565
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
764
The length of the canonical sequence.
Location on the sequence:
KRDLEIEVVLFHPNYNINGK
K EAGIPEFYDYDVALIKLKNK
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 KRDLEIEVVLFHPNYNINGKK EAGIPEFYDYDVALIKLKNK
Gorilla KRDLEIEVVLFHPNYNINGKK EAGIPEFYDYDVALIKLKNK
Chimpanzee KRDLEIEVVLFHPNYNINGKK AAGIPEFYDYDVALIKLKNK
Mouse RRDLEIEEVLFHPKYNINGKK AEGIPEFYDYDVALVKLKNK
Bovine RKEWEVKEILFHPKYDLNAKK AKGIPEFYDYDVALVRLKEK
Slime mold ----------FNITLSIN--- --------------------
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 – 764
Complement factor B
Chain
260 – 764
Complement factor B Bb fragment
Domain
477 – 757
Peptidase S1
Active site
576 – 576
Charge relay system
Disulfide bond
478 – 596
Alternative sequence
543 – 621
GEKRDLEIEVVLFHPNYNINGKKEAGIPEFYDYDVALIKLKNKLKYGQTIRPICLPCTEGTTRALRLPPTTTCQQQKEE -> KDATEGPGLHLCSPGNTSHFLQILHSTHPQCSPIPCTPDQSGMGEDVKLGMTRGQRQEAAHKEVVPTLLLQEGRSGTWR. In isoform 2.
Helix
565 – 567
Literature citations
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HIS-9; GLN-32; TRP-32; SER-252; GLU-565 AND GLU-651;
The DNA sequence and analysis of human chromosome 6.
Mungall A.J.; Palmer S.A.; Sims S.K.; Edwards C.A.; Ashurst J.L.; Wilming L.; Jones M.C.; Horton R.; Hunt S.E.; Scott C.E.; Gilbert J.G.R.; Clamp M.E.; Bethel G.; Milne S.; Ainscough R.; Almeida J.P.; Ambrose K.D.; Andrews T.D.; Ashwell R.I.S.; Babbage A.K.; Bagguley C.L.; Bailey J.; Banerjee R.; Barker D.J.; Barlow K.F.; Bates K.; Beare D.M.; Beasley H.; Beasley O.; Bird C.P.; Blakey S.E.; Bray-Allen S.; Brook J.; Brown A.J.; Brown J.Y.; Burford D.C.; Burrill W.; Burton J.; Carder C.; Carter N.P.; Chapman J.C.; Clark S.Y.; Clark G.; Clee C.M.; Clegg S.; Cobley V.; Collier R.E.; Collins J.E.; Colman L.K.; Corby N.R.; Coville G.J.; Culley K.M.; Dhami P.; Davies J.; Dunn M.; Earthrowl M.E.; Ellington A.E.; Evans K.A.; Faulkner L.; Francis M.D.; Frankish A.; Frankland J.; French L.; Garner P.; Garnett J.; Ghori M.J.; Gilby L.M.; Gillson C.J.; Glithero R.J.; Grafham D.V.; Grant M.; Gribble S.; Griffiths C.; Griffiths M.N.D.; Hall R.; Halls K.S.; Hammond S.; Harley J.L.; Hart E.A.; Heath P.D.; Heathcott R.; Holmes S.J.; Howden P.J.; Howe K.L.; Howell G.R.; Huckle E.; Humphray S.J.; Humphries M.D.; Hunt A.R.; Johnson C.M.; Joy A.A.; Kay M.; Keenan S.J.; Kimberley A.M.; King A.; Laird G.K.; Langford C.; Lawlor S.; Leongamornlert D.A.; Leversha M.; Lloyd C.R.; Lloyd D.M.; Loveland J.E.; Lovell J.; Martin S.; Mashreghi-Mohammadi M.; Maslen G.L.; Matthews L.; McCann O.T.; McLaren S.J.; McLay K.; McMurray A.; Moore M.J.F.; Mullikin J.C.; Niblett D.; Nickerson T.; Novik K.L.; Oliver K.; Overton-Larty E.K.; Parker A.; Patel R.; Pearce A.V.; Peck A.I.; Phillimore B.J.C.T.; Phillips S.; Plumb R.W.; Porter K.M.; Ramsey Y.; Ranby S.A.; Rice C.M.; Ross M.T.; Searle S.M.; Sehra H.K.; Sheridan E.; Skuce C.D.; Smith S.; Smith M.; Spraggon L.; Squares S.L.; Steward C.A.; Sycamore N.; Tamlyn-Hall G.; Tester J.; Theaker A.J.; Thomas D.W.; Thorpe A.; Tracey A.; Tromans A.; Tubby B.; Wall M.; Wallis J.M.; West A.P.; White S.S.; Whitehead S.L.; Whittaker H.; Wild A.; Willey D.J.; Wilmer T.E.; Wood J.M.; Wray P.W.; Wyatt J.C.; Young L.; Younger R.M.; Bentley D.R.; Coulson A.; Durbin R.M.; Hubbard T.; Sulston J.E.; Dunham I.; Rogers J.; Beck S.;
Nature 425:805-811(2003)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT GLU-565;
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.