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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43791: Variant p.Asp144Asn

Speckle-type POZ protein
Gene: SPOP
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Variant information Variant position: help 144 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 Aspartate (D) to Asparagine (N) at position 144 (D144N, p.Asp144Asn). 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 acidic (D) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In NSDVS1; gain-of-function, reduced BET proteins stability. Any additional useful information about the variant.


Sequence information Variant position: help 144 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 374 The length of the canonical sequence.
Location on the sequence: help RFVQGKDWGFKKFIRRDFLL D EANGLLPDDKLTLFCEVSVV 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                         RFVQGKDWGFKKFIRRDFLLDEANGLLPDDKLTLFCEVSVV

Mouse                         RFVQGKDWGFKKFIRRDFLLDEANGLLPDDKLTLFCEVSVV

Bovine                        RFVQGKDWGFKKFIRRDFLLDEANGLLPDDKLTLFCEVSVV

Xenopus tropicalis            RFVQGKDWGFKKFIRRDFLLDEANGLLPDDKLTLFCEVSVV

Zebrafish                     RFVQGKDWGFKKFIRRDFLLDEANGLLPDDKLTLFCEVSVV

Caenorhabditis elegans        RFVQGKDWGFKKFIRRDFLLDEANGLLPGDRLSIFCEVSVV

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 – 374 Speckle-type POZ protein
Domain 31 – 161 MATH
Region 71 – 191 Required for nuclear localization
Mutagenesis 130 – 130 D -> A. Strongly reduced affinity for substrate proteins.
Mutagenesis 131 – 131 W -> A. Strongly reduced affinity for substrate proteins.
Mutagenesis 133 – 133 F -> A. Strongly reduced affinity for substrate proteins.



Literature citations
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.
Nabais Sa M.J.; El Tekle G.; de Brouwer A.P.M.; Sawyer S.L.; Del Gaudio D.; Parker M.J.; Kanani F.; van den Boogaard M.H.; van Gassen K.; Van Allen M.I.; Wierenga K.; Purcarin G.; Elias E.R.; Begtrup A.; Keller-Ramey J.; Bernasocchi T.; van de Wiel L.; Gilissen C.; Venselaar H.; Pfundt R.; Vissers L.E.L.M.; Theurillat J.P.; de Vries B.B.A.;
Am. J. Hum. Genet. 106:405-411(2020)
Cited for: VARIANTS NSDVS2 ALA-25; CYS-83; VAL-132 AND CYS-138; CHARACTERIZATION OF VARIANTS NSDVS2 ALA-25; CYS-83; VAL-132 AND CYS-138; VARIANTS NSDVS1 GLN-121 AND ASN-144; CHARACTERIZATION OF VARIANTS NSDVS1 GLN-121 AND ASN-144; FUNCTION;
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.