UniProtKB/Swiss-Prot P35579: Variant p.Glu1841Lys

Myosin-9
Gene: MYH9
Chromosomal location: 22q13.1
Variant information

Variant position:  1841
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Glutamate (E) to Lysine (K) at position 1841 (E1841K, p.Glu1841Lys).
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 medium size and acidic (E) to large size and basic (K)
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

Variant description:  In FTNS, SBS, MHA and EPS.
Any additional useful information about the variant.



Sequence information

Variant position:  1841
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1960
The length of the canonical sequence.

Location on the sequence:   EQLDNETKERQAACKQVRRT  E KKLKDVLLQVDDERRNAEQY
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                         EQLDNETKERQAACKQVRRTEKKLKDVLLQVDDERRNAEQY

Mouse                         EQLDNETKERQAASKQVRRTEKKLKDVLLQVEDERRNAEQF

Rat                           EQLDNETKERQAASKQVRRAEKKLKDVLLQVEDERRNAEQF

Dog                           EQLDNETKERQAACKQVRRAEKKLKDVLLQVDDERRNAEQF

Chicken                       EQLDMETKERQAASKQVRRAEKKLKDILLQVDDERRNAEQF

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.

TypePositionsDescription
Chain 2 – 1960 Myosin-9
Coiled coil 837 – 1926
Modified residue 1845 – 1845 N6-acetyllysine


Literature citations

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes.
Seri M.; Cusano M.; Gangarossa S.; Caridi G.; Bordo D.; Lo Nigro C.; Ghiggeri G.M.; Ravazzolo R.; Savino M.; Del Vecchio M.; d'Apolito M.; Iolascon A.; Zelante L.L.; Savoia A.; Balduini C.L.; Noris P.; Magrini U.; Belletti S.; Heath K.E.; Babcock M.; Glucksman M.J.; Aliprandis E.; Bizzaro N.; Desnick R.J.; Martignetti J.A.;
Nat. Genet. 26:103-105(2000)
Cited for: VARIANTS MHA/FTNS/SBS LYS-93; CYS-702; CYS-1165; HIS-1424 AND LYS-1841;

Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.
Kelley M.J.; Jawien W.; Ortel T.L.; Korczak J.F.;
Nat. Genet. 26:106-108(2000)
Cited for: VARIANTS MHA ILE-1155 AND LYS-1841;

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
Heath K.E.; Campos-Barros A.; Toren A.; Rozenfeld-Granot G.; Carlsson L.E.; Savige J.; Denison J.C.; Gregory M.C.; White J.G.; Barker D.F.; Greinacher A.; Epstein C.J.; Glucksman M.J.; Martignetti J.A.;
Am. J. Hum. Genet. 69:1033-1045(2001)
Cited for: VARIANTS MHA/SBS/FTNS/EPS/APSM ASN-373; CYS-702; HIS-702; PRO-1114; ASN-1424; HIS-1424 AND LYS-1841;

Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
Kunishima S.; Matsushita T.; Kojima T.; Amemiya N.; Choi Y.M.; Hosaka N.; Inoue M.; Jung Y.; Mamiya S.; Matsumoto K.; Miyajima Y.; Zhang G.; Ruan C.; Saito K.; Song K.S.; Yoon H.-J.; Kamiya T.; Saito H.;
J. Hum. Genet. 46:722-729(2001)
Cited for: VARIANTS MHA/FTNS/SBS THR-95; CYS-1165; LEU-1165; 1205-LEU--GLN-1207 DEL; HIS-1424; ASN-1424; TYR-1424 AND LYS-1841; VARIANT VAL-1626;

Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.
Arrondel C.; Vodovar N.; Knebelmann B.; Gruenfeld J.-P.; Gubler M.-C.; Antignac C.; Heidet L.;
J. Am. Soc. Nephrol. 13:65-74(2002)
Cited for: VARIANTS FTNS/EPS LEU-96; LEU-1165; ASN-1424 AND LYS-1841; VARIANT TRP-1400; TISSUE SPECIFICITY;

Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations.
Kunishima S.; Matsushita T.; Kojima T.; Sako M.; Kimura F.; Jo E.-K.; Inoue C.; Kamiya T.; Saito H.;
Lab. Invest. 83:115-122(2003)
Cited for: VARIANT FTNS/SBS CYS-1165; VARIANTS SBS LEU-1165 AND 1205-LEU--GLN-1207 DEL; VARIANTS MHA HIS-1424; ASN-1424; TYR-1424 AND LYS-1841; VARIANT EPS VAL-1816; VARIANT FTNS/MHA LYS-1841;

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.