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SMN1

From SNPedia

is agene
is mentioned by
Full namesurvival of motor neuron 1, telomeric
EntrezGene6606
PheGenI6606
VariationViewer6606
ClinVarSMN1
GeneCardsSMN1
dbSNP6606
SADR6606
HugeNav6606
wikipediaSMN1
googleSMN1
gopubmedSMN1
EVSSMN1
HEFalMpSMN1
MyGene2SMN1
23andMeSMN1
UniProtQ16637
EnsemblENSG00000172062
OMIM600354
# SNPs33
 Max MagnitudeChromosome positionSummary
i500572770,241,990
i500572870,241,954
i500572970,241,984
i500573370,238,216
i500573470,234,672
i500573570,234,715
i500573770,238,243
i500573870,241,953
i500573970,238,257
rs104893922670,241,984
rs10489392570,241,990
rs10489392670,241,954
rs104893927370,238,194
rs10489392870,220,935
rs10489392970,238,216
rs104893930670,234,672
rs104893931670,234,715
rs104893932670,241,953
rs104893933370,238,257
rs104893934670,238,317
rs104893935670,238,243
rs397514517370,238,300
rs397514518370,238,299
rs75030631370,220,935
rs75660264670,241,954
rs76163360370,247,769
rs76871093670,241,990
rs773018813
rs77804083670,238,216
rs779691753
rs793101363
rs7965418553
rs797845403

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. 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:

rsid 23andMe term synonyms (c. or p.) OMIM On chip?
rs75030631 c.5C>G, p.Ala2Gly, A2G 600354.0006
rs79310136 c.43C>T, p.Gln14Ter, Q15X
rs104893930 i5005734 c.88G>A, p.Asp30Asn, D30N 600354.0012
rs104893931 rs104893931 c.131A>T, p.Asp44Val, D44V 600354.0013
rs104893927 rs104893927 c.283G>C, p.Gly95Arg, G95R 600354.0014
rs77804083 i5005733 c.305G>A, p.Trp102Ter, W102X. 600354.0010
rs104893935 i5005737 c.332C>G, p.Ala111Gly, A111G. 600354.0015
rs104893933 i5005739 c.346A>T, p.Ile116Phe, I116F 600354.0017
rs397514518 c.388T>C, p.Tyr130His, Y130H 600354.0020
rs397514517 c.389A>G, p.Tyr130Cys, Y130C 600354.0019
rs104893934 rs104893934 c.406C>G, p.Gln136Glu, Q136E 600354.0018
rs796541855 c.558delA
rs79784540 c.683T>A, p.Leu228Ter, L228X
rs104893932 i5005738 c.784A>G, p.Ser262Gly, S262G 600354.0016
rs75660264 i5005728 c.785G>T, p.Ser262Ile, S262I 600354.0003
rs104893922 i5005729 c.815A>G,.p.Tyr272Cys, Y272C 600354.0004
rs76871093 i5005727 c.821C>T, p.Thr274Ile, T274I 600354.0002
rs77301881 c.823G>A, p.Gly275Ser, G275S
rs77969175 rs77969175 c.835G>T
rs76163360 rs76163360 c.836G>T, p.Gly279Val, G279V Ancestry v2