SMN1
| is a | gene |
| is | mentioned by |
| Full name | survival of motor neuron 1, telomeric |
| EntrezGene | 6606 |
| PheGenI | 6606 |
| VariationViewer | 6606 |
| ClinVar | SMN1 |
| GeneCards | SMN1 |
| dbSNP | 6606 |
| Diseases | SMN1 |
| SADR | 6606 |
| HugeNav | 6606 |
| wikipedia | SMN1 |
| SMN1 | |
| gopubmed | SMN1 |
| EVS | SMN1 |
| HEFalMp | SMN1 |
| MyGene2 | SMN1 |
| 23andMe | SMN1 |
| UniProt | Q16637 |
| Ensembl | ENSG00000172062 |
| OMIM | 600354 |
| # SNPs | 33 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| i5005727 | 70,241,990 | ||
| i5005728 | 70,241,954 | ||
| i5005729 | 70,241,984 | ||
| i5005733 | 70,238,216 | ||
| i5005734 | 70,234,672 | ||
| i5005735 | 70,234,715 | ||
| i5005737 | 70,238,243 | ||
| i5005738 | 70,241,953 | ||
| i5005739 | 70,238,257 | ||
| rs104893922 | 6 | 70,946,157 | |
| rs104893925 | 0 | 70,241,990 | |
| rs104893926 | 0 | 70,241,954 | |
| rs104893927 | 3 | 70,942,367 | |
| rs104893928 | 0 | 70,220,935 | |
| rs104893929 | 0 | 70,238,216 | |
| rs104893930 | 6 | 70,938,845 | |
| rs104893931 | 6 | 70,938,888 | |
| rs104893932 | 6 | 70,946,126 | |
| rs104893933 | 3 | 70,942,430 | |
| rs104893934 | 6 | 70,942,490 | |
| rs104893935 | 6 | 70,942,416 | |
| rs397514517 | 3 | 70,942,473 | |
| rs397514518 | 3 | 70,942,472 | |
| rs75030631 | 3 | 70,925,108 | |
| rs75660264 | 6 | 70,946,127 | |
| rs76163360 | 3 | 70,951,942 | |
| rs76871093 | 6 | 70,946,163 | |
| rs77301881 | 3 | 70,946,165 | |
| rs77804083 | 6 | 70,942,389 | |
| rs77969175 | 3 | 70,951,941 | |
| rs79310136 | 0 | 70,925,146 | |
| rs796541855 | 3 | 70,942,801 | |
| rs79784540 | 3 | 70,944,713 |
SMN1 is the telomeric copy of the gene encoding the SMN protein; the centromeric copy is termed SMN2. SMN1 and SMN2 are part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions, and which can confound genotyping and sequencing assays [PMID 27228465]. SMN1 and SMN2 are nearly identical and encode the same protein. The critical sequence difference between the two is a single nucleotide in exon 7 which is thought to be an exon splice enhancer; the (T) in SMN2 at position 840 (instead of the C in SMN1) affects the splicing of the mRNA, so SMN2 transcripts lack exon 7, which is needed for protein function, whereas those from SMN1 contain it.Wikipedia
Recessively inherited mutations in SMN1 are associated with spinal muscular atrophy, with the vast majority (95%) consisting of homozygous deletions of SMN1 exon 7. Mutations in the centromeric copy, SMN2, do not lead to disease. Wikipedia
ClinVar mutations indicated as pathogenic for spinal muscular atrophy include:
