Sequence information
Variant position: 274 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 294 The length of the canonical sequence.
Location on the sequence:
LDDADALGSMLISWYMSGYH
T GYYMGFRQNQKEGRCSHSLN
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 LDDADA----LGSMLISWYMSGYHT GYYMGFRQNQKE-GRCSHSLN
LDDADA----LGSMLISWYMSGYHT GYYMGFKQNQKE-GRC
Mouse LDDTDA----LGSMLISWYMSGYHT GYYMGFRQNKKE-GKC
Rat LDDTDA----LGSMLISWYMSGYHT GYYMGFRQNKKEGKKC
Bovine LDDADA----LGSMLISWYMSGYHT GYYMGFKQSQKE-GRY
Cat LDDADA----LGSMLISWYMSGYHT GYYMGFKQNQKE-GRC
Drosophila VGQGDGAEQDFVAMLTAWYMSGYYT GLYQGKKEASTTSGKK
Fission yeast YDET------YKKLIMSWYYAGYYT GLAEGLAKSEQR----
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
2 – 294
Survival motor neuron protein
Region
252 – 280
Involved in homooligomerization
Mutagenesis
260 – 260
L -> S. Impairs homooligomerization.
Mutagenesis
263 – 263
M -> RTA. Impairs homooligomerization and GEMIN8 binding.
Mutagenesis
264 – 264
L -> A. Impairs homooligomerization.
Mutagenesis
266 – 266
S -> P. Impairs homooligomerization and GEMIN8 binding.
Mutagenesis
267 – 267
W -> A. Impairs homooligomerization.
Mutagenesis
268 – 268
Y -> A. Impairs homooligomerization.
Mutagenesis
271 – 271
G -> A. Impairs homooligomerization.
Mutagenesis
272 – 272
Y -> A. Impairs homooligomerization.
Mutagenesis
273 – 273
H -> R. Impairs GEMIN8 binding.
Mutagenesis
274 – 274
T -> A. Impairs homooligomerization.
Mutagenesis
275 – 275
G -> A. Impairs homooligomerization.
Mutagenesis
279 – 279
G -> E. Impairs homooligomerization.
Helix
263 – 280
Literature citations
Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress.
Hua Y.; Zhou J.;
Biochem. Biophys. Res. Commun. 314:268-276(2004)
Cited for: SUBUNIT; INTERACTION WITH RPP20/POP7; SUBCELLULAR LOCATION; MUTAGENESIS OF GLU-134; CHARACTERIZATION OF VARIANTS SMA1 CYS-272 AND VAL-279; CHARACTERIZATION OF VARIANT SMA2 AND SMA3 ILE-274; CHARACTERIZATION OF VARIANT SMA3 ILE-262;
The survival motor neuron protein forms soluble glycine zipper oligomers.
Martin R.; Gupta K.; Ninan N.S.; Perry K.; Van Duyne G.D.;
Structure 20:1929-1939(2012)
Cited for: X-RAY CRYSTALLOGRAPHY (1.90 ANGSTROMS) OF 263-294; SUBUNIT; INTERACTION WITH GEMIN2; CHARACTERIZATION OF VARIANTS SMA1 CYS-272; SMA2/SMA3 ILE-274; SMA3 SER-275 AND SMA1 VAL-279; MUTAGENESIS OF LEU-260; MET-263; LEU-264; SER-266; TRP-267; TYR-268; GLY-271; TYR-272; THR-274; GLY-275 AND GLY-279;
Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).
Hahnen E.; Schoenling J.; Rudnik-Schoeneborn S.; Raschke H.; Zerres K.; Wirth B.;
Hum. Mol. Genet. 6:821-825(1997)
Cited for: VARIANT SMA3 ILE-262; VARIANT SMA2/SMA3 ILE-274;
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.
Sun Y.; Grimmler M.; Schwarzer V.; Schoenen F.; Fischer U.; Wirth B.;
Hum. Mutat. 25:64-71(2005)
Cited for: VARIANTS SMA1/SMA2/SMA3 ASN-30; VAL-44; ARG-95; GLY-111; GLY-262; CYS-272 AND ILE-274; CHARACTERIZATION OF VARIANTS SMA1/SMA2/SMA3 ASN-30; VAL-44; ARG-95 AND GLY-111;
Identification and structural analysis of the Schizosaccharomyces pombe SMN complex.
Veepaschit J.; Viswanathan A.; Bordonne R.; Grimm C.; Fischer U.;
Nucleic Acids Res. 49:gkab158-gkab158(2021)
Cited for: INTERACTION WITH GEMIN8; CHARACTERIZATION OF VARIANTS SMA1 CYS-272 AND SMA3 ILE-274; MUTAGENESIS OF MET-263; SER-266 AND HIS-273;
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.