Sequence information
Variant position: 20 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 461 The length of the canonical sequence.
Location on the sequence:
MQRVNMIMAESPGLITICL
L GYLLSAECTVFLDHENANKI
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 MQRVNMIMAESPGLITICLL GYLLSAECTVFLDHENANKI
-------MAEASGLVTVCLL GYLLSAECAVFLDRENATKI
Chimpanzee MQRVNMIMAESPGLITICLL GYLLSAECTVFLDHENANKI
Mouse MKHLNTVMAESPALITIFLL GYLLSTECAVFLDRENATKI
Rat -------MADAPGLIPIFLL GYLLSTECAVFLDRENATKI
Bovine MWCLNMIMAESPGLVTICLL GYLLSAECTVFLDRENATKI
Cat MRCLNMIMAEPPGLITICLL GYLLGADCTVFLDHEDATKV
Chicken -------MAKIPLILSFCLL EAFLGAESTVFIENKEASTV
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
Signal peptide
1 – 28
Literature citations
Posttranslational modifications of recombinant myotube-synthesized human factor IX.
Arruda V.R.; Hagstrom J.N.; Deitch J.; Heiman-Patterson T.; Camire R.M.; Chu K.; Fields P.A.; Herzog R.W.; Couto L.B.; Larson P.J.; High K.A.;
Blood 97:130-138(2001)
Cited for: SULFATION AT TYR-201; PHOSPHORYLATION AT SER-204;
Identification of protein O-glycosylation site and corresponding glycans using liquid chromatography-tandem mass spectrometry via mapping accurate mass and retention time shift.
Huang L.J.; Lin J.H.; Tsai J.H.; Chu Y.Y.; Chen Y.W.; Chen S.L.; Chen S.H.;
J. Chromatogr. A 1371:136-145(2014)
Cited for: GLYCOSYLATION AT THR-85; SER-99; SER-107; THR-205; THR-215 AND THR-225; PHOSPHORYLATION AT SER-204 AND THR-205; IDENTIFICATION BY MASS SPECTROMETRY;
Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations.
Guo Z.P.; Yang L.H.; Qin X.Y.; Liu X.E.; Chen J.F.; Zhang Y.F.;
Haemophilia 20:859-865(2014)
Cited for: VARIANTS HEMB SER-20; TYR-28; SER-46; ASP-54; GLU-58; ARG-84; HIS-138; GLN-226; ILE-284 DEL; MET-296; LYS-328; TYR-328; THR-414 AND TYR-THR-LYS-VAL-447 INS; CHARACTERIZATION OF VARIANTS HEMB SER-20; TYR-28; SER-46; ASP-54; GLU-58; ARG-84; HIS-138; GLN-226; ILE-284 DEL; MET-296; LYS-328; TYR-328; THR-414 AND TYR-THR-LYS-VAL-447 INS;
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.