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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14160: Variant p.Arg1535Gln

Protein scribble homolog
Gene: SCRIB
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Variant information Variant position: help 1535 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 Arginine (R) to Glutamine (Q) at position 1535 (R1535Q, p.Arg1535Gln). 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 large size and basic (R) to medium size and polar (Q) 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 NTD; protein interactions not affected by the mutation; shows reduced protein localization to the cell membrane. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1535 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1630 The length of the canonical sequence.
Location on the sequence: help RAQMVLSRSQEGRGTRGPLE R LAEAPSPAPTPSPTPVEDLG 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                         RAQMVLSRSQEGRGTRGPLERLAEAPSPAPTPSPTPVEDLG

Mouse                         RAQMVLSKSQEGRGKRGPLERLAEAPSPAPTPSPTPLEDFG

Zebrafish                     KAQMVIAKSKEGK-KRGTLDQLSESPSPAPTPSPTPMEDIS

Drosophila                    EDQHKPTQKTDKVFSFLSKDEVEKLRQEEERKIATLRRDKN

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 – 1630 Protein scribble homolog
Region 1520 – 1630 Disordered
Modified residue 1541 – 1541 Phosphoserine
Modified residue 1545 – 1545 Phosphothreonine
Modified residue 1547 – 1547 Phosphoserine



Literature citations
Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis.
Robinson A.; Escuin S.; Doudney K.; Vekemans M.; Stevenson R.E.; Greene N.D.; Copp A.J.; Stanier P.;
Hum. Mutat. 33:440-447(2012)
Cited for: VARIANTS NTD SER-454 AND GLN-1535; CHARACTERIZATION OF VARIANTS NTD SER-454 AND GLN-1535;
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.