Sequence information
Variant position: 173 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 582 The length of the canonical sequence.
Location on the sequence:
LSENSLTSLPDSLDNLKKLR
M LDLRHNKLREIPSVVYRLDS
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 LSENSLTSLPDSLDNLKKLRM LDLRHNKLREIPSVVYRLDS
Mouse LSENSLTSLPDSLDNLKKLRM LDLRHNKLREIPSVVYRLDS
Rat LSENSLTSLPDSLDNLKKLRM LDLRHNKLREIPSVVYRLDS
Bovine LSENSLTSLPDSLDNLKKLRM LDLRHNKLREIPSVVYRLDS
Chicken LSENSLTSLPDSLDNLKKLRM LDLRHNKLREIPSVVYRLTS
Xenopus laevis LSENSLTSLPDSLDNLKKLCM LDLRHNKLREIPPVVYRLSS
Zebrafish LSENSLTSLPDSLDNLKKLRM LDLRHNKLREIPAVVYRVSS
Caenorhabditis elegans LSENALTSLPDSLASLESLET LDLRHNKLTEVPSVIYKIGS
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
Chain
1 – 582
Leucine-rich repeat protein SHOC-2
Repeat
170 – 191
LRR 4
Literature citations
A Novel SHOC2 Variant in Rasopathy.
Hannig V.; Jeoung M.; Jang E.R.; Phillips J.A. III; Galperin E.;
Hum. Mutat. 35:1290-1294(2014)
Cited for: VARIANT NSLH1 ILE-173; CHARACTERIZATION OF VARIANT NSLH1 ILE-173; FUNCTION; INTERACTION WITH MRAS AND RAF1 AND PHOSPHATASE 1C; SUBCELLULAR LOCATION;
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.