Variant position: 148 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1064 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 DGASAPLSLTRVTVVLLVAA SDIAALGTEGSSVFFLDVTTL
Mouse DNASFPASLTRVTVVLLVAG -NTAALGTESGSIFFLDVATL
Rat GNASFPAGLTRVTVVLLAAG -DTVVLGTESGSIFFLDVATL
Bovine DNASFPAGLTRVTVVLLAAG -DTVVLGTESGSIFFLDVATL
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 – 1064 Lethal(2) giant larvae protein homolog 1
139 – 176 WD 3
A human homologue of the Drosophila tumour suppressor gene l(2)gl maps to 17p11.2-12 and codes for a cytoskeletal protein that associates with nonmuscle myosin II heavy chain.
Strand D.J.; Unger S.; Corvi R.; Hartenstein K.; Schenkel H.; Kalmes A.; Merdes G.; Neumann B.; Kreig-Schneider F.; Coy J.F.; Poustka A.; Schwab M.; Mechler B.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; INTERACTION WITH MYOSIN II HEAVY CHAIN; VARIANTS GLY-148 AND HIS-550;
The human homologue of the murine Llglh gene (LLGL) maps within the Smith-Magenis syndrome region in 17p11.2.
Koyama K.; Fukushima Y.; Inazawa J.; Tomotsune D.; Takahashi N.; Nakamura Y.;
Cytogenet. Cell Genet. 72:78-82(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT GLY-148;
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT GLY-148;
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.