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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NYP3: Variant p.Cys278Arg

Protein downstream neighbor of Son
Gene: DONSON
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Variant information Variant position: help 278 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Cysteine (C) to Arginine (R) at position 278 (C278R, p.Cys278Arg). 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: help Change from medium size and polar (C) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In MISSLA. Any additional useful information about the variant.


Sequence information Variant position: help 278 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 566 The length of the canonical sequence.
Location on the sequence: help LMSDWSVSFTSLYNLLKTKL C PYFYVCTYQFTVLFRAAGLA 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LMSDWSVSFTSLYNLLKTKLCPYFYVCTYQFTVLFRAAGLA

Mouse                         LMSDWSVSFTSLYNLLKTKLCPYFYVCSYQFTVLFRAAGLA

Xenopus laevis                LMSEWALSFTSLYNLLKAKLCPYFYVCTYQFTVLFRAAGLA

Xenopus tropicalis            IMSEWALSFTSLYNLLKAKLCPYFYVCTYQFTVLFRAAGLA

Drosophila                    LAEEWDFSFRGLFQLLRARQCPYFYLCANTFTVLFRAAGVG
Sequence annotation in neighborhood: help 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 1 – 566 Protein downstream neighbor of Son
Alternative sequence 263 – 263 S -> Y. In isoform 2.
Alternative sequence 264 – 566 Missing. In isoform 2.
Alternative sequence 266 – 566 Missing. In isoform 3.



Literature citations
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Reynolds J.J.; Bicknell L.S.; Carroll P.; Higgs M.R.; Shaheen R.; Murray J.E.; Papadopoulos D.K.; Leitch A.; Murina O.; Tarnauskaite Z.; Wessel S.R.; Zlatanou A.; Vernet A.; von Kriegsheim A.; Mottram R.M.; Logan C.V.; Bye H.; Li Y.; Brean A.; Maddirevula S.; Challis R.C.; Skouloudaki K.; Almoisheer A.; Alsaif H.S.; Amar A.; Prescott N.J.; Bober M.B.; Duker A.; Faqeih E.; Seidahmed M.Z.; Al Tala S.; Alswaid A.; Ahmed S.; Al-Aama J.Y.; Altmueller J.; Al Balwi M.; Brady A.F.; Chessa L.; Cox H.; Fischetto R.; Heller R.; Henderson B.D.; Hobson E.; Nuernberg P.; Percin E.F.; Peron A.; Spaccini L.; Quigley A.J.; Thakur S.; Wise C.A.; Yoon G.; Alnemer M.; Tomancak P.; Yigit G.; Taylor A.M.; Reijns M.A.; Simpson M.A.; Cortez D.; Alkuraya F.S.; Mathew C.G.; Jackson A.P.; Stewart G.S.;
Nat. Genet. 49:537-549(2017)
Cited for: INVOLVEMENT IN MISSLA; VARIANTS MISSLA ARG-278; CYS-282; LEU-292; 293-ARG--SER-566 DEL; 417-ASN-SER-418 DEL; 419-LYS--SER-566 DEL; 428-GLN--SER-566 DEL; SER-433; THR-446; THR-489; LYS-504; LYS-543 INS AND 563-ASN--SER-566 DEL; CHARACTERIZATION OF VARIANTS MISSLA CYS-282; LEU-292; 417-ASN-SER-418 DEL; THR-446; THR-489 AND LYS-543; VARIANT ARG-28; CHARACTERIZATION OF VARIANT ARG-28; FUNCTION; SUBCELLULAR LOCATION; INDUCTION; IDENTIFICATION IN THE REPLISOME COMPLEX; INTERACTION WITH MCM2; MCM7; PCNA AND TICRR;
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.