Variant position: 121 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 374 The length of the canonical sequence.
Location on the sequence:
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 KFKFSILNAKGEETKAMESQ RAYRFVQGKDWGFKKFIRRDF
Mouse KFKFSILNAKGEETKAMESQ RAYRFVQGKDWGFKKFIRRDF
Bovine KFKFSILNAKGEETKAMESQ RAYRFVQGKDWGFKKFIRRDF
Xenopus tropicalis KFKFSILNAKGEETKAMESQ RAYRFVQGKDWGFKKFIRRDF
Zebrafish KFKFSILNAKGEETKAMESQ RAYRFVQGKDWGFKKFIRRDF
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
1 – 374 Speckle-type POZ protein
31 – 161 MATH
71 – 191 Required for nuclear localization
123 – 123 Y -> A. Strongly reduced affinity for substrate proteins.
130 – 130 D -> A. Strongly reduced affinity for substrate proteins.
131 – 131 W -> A. Strongly reduced affinity for substrate proteins.
133 – 133 F -> A. Strongly reduced affinity for substrate proteins.
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;
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.