Variant position: 44 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:
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 GTGQSDDSDIWDDTALIKAY DKAVASFKHAL--KNGDICETSG
Mouse GTGQSDDSDIWDDTALIKAY DKAVASFKHAL--KNGDICET
Rat GTGQSDDSDIWDDTALIKAY DKAVASFKHAL--KNGDMCET
Bovine GTGESDDSDVWDDTALIKAY DKAVASFKHAL--KNGDISEA
Cat GTGQSDDSDIWDDTALIKAY DKAVASFKHAL--KNGDISEA
Drosophila -MSDETNAAVWDDSLLVKTY DESVGLAREALARRLADSTNK
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
2 – 294 Survival motor neuron protein
13 – 44 P1 (binding site for GEMIN2)
25 – 25 Phosphothreonine
28 – 28 Phosphoserine
31 – 31 Phosphoserine
51 – 51 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
38 – 48
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;
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.