Variant position: 86 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1287 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 YRHAKQNKKN-SSCFLLGSLT ADEDEEGVTLTVDRFDPGREV
Mouse YRHAKQNKKN-VPCFLLGSLT VDEDEEGVTLTIDRFDPGRE
Xenopus laevis SRHAKTGRKP-FSCFLLGTFS VDEDEEGVTLTVDRFDPGRE
Zebrafish HRHARQTNKPRFFCFLLGTLA VDSDEEGVTITLDRFDPGRE
Drosophila --------------------- ----GDNVTVKCCYCPPDRI
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 – 1287 SCL-interrupting locus protein
1 – 1018 Interaction with RBM14
The genomic structure, chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephaly.
Karkera J.D.; Izraeli S.; Roessler E.; Dutra A.; Kirsch I.R.; Muenke M.;
Cytogenet. Genome Res. 97:62-67(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; ALTERNATIVE SPLICING (ISOFORM 1); VARIANTS VAL-86 AND ARG-1012;
The full-ORF clone resource of the German cDNA consortium.
Bechtel S.; Rosenfelder H.; Duda A.; Schmidt C.P.; Ernst U.; Wellenreuther R.; Mehrle A.; Schuster C.; Bahr A.; Bloecker H.; Heubner D.; Hoerlein A.; Michel G.; Wedler H.; Koehrer K.; Ottenwaelder B.; Poustka A.; Wiemann S.; Schupp I.;
BMC Genomics 8:399-399(2007)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2); VARIANTS VAL-86 AND ARG-984;
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.