PMID: 33491046

Exome-Wide Association Study Identifies FN3KRP and PGP as New Candidate Longevity Genes.

The journals of gerontology. Series A, Biological sciences and medical sciences
Torres, Guillermo G GG, Nygaard, Marianne M, Caliebe, Amke A, Blanché, Hélène H, Chantalat, Sophie S, Galan, Pilar P, Lieb, Wolfgang W, Christiansen, Lene L, Deleuze, Jean-François JF, Christensen, Kaare K, Strauch, Konstantin K, Müller-Nurasyid, Martina M, Peters, Annette A, Nöthen, Markus M MM, Hoffmann, Per P, Flachsbart, Friederike F, Schreiber, Stefan S, Ellinghaus, David D, Franke, Andre A, Dose, Janina J, Nebel, Almut A
2021-04-30

76 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
3-161221705-A-C OTOL1 c.1409A>C p.E470A Missense 4/4 -
17-58024324-A-G RPS6KB1 c.*175A>G - 3-UTRSNV 15/15 -
19-1080681-G-A ARHGAP45 c.1913G>A p.G638E Missense 16/23 -
5-56207123-T-A SETD9 c.226T>A p.S76T Missense 2/6 -
17-42429500-C-T GRN c.1297C>T p.R433W Missense 11/13 -
19-15289850-T-A NOTCH3 c.3704A>T p.H1235L Missense 22/33 -
17-42427605-C-A GRN c.359C>A p.S120Y Missense 5/13 -
19-45395619-A-G TOMM40 c.275-31A>G - IntronicSNV - 1/8
17-42426587-C-T GRN c.55C>T p.R19W Missense 2/13 -
17-42428954-G-A GRN c.970G>A p.A324T Missense 10/13 -
1-76397972-C-T ASB17 c.5G>A p.S2N Missense 1/3 -
19-1074000-A-C ARHGAP45 c.777A>C p.E259D Missense 6/23 -
19-1074000-A-T ARHGAP45 c.777A>T p.E259D Missense 6/23 -
6-161067320-GA-CC LPA c.316_317delTCinsGG p.S106G Missense 3/39 -
5-56207123-T-G SETD9 c.226T>G p.S76A Missense 2/6 -
5-79616083-G-C SPZ1 c.49G>C p.V17L Missense 1/1 -
5-79616936-A-C SPZ1 c.902A>C p.H301P Missense 1/1 -
19-1079959-G-A ARHGAP45 c.1545G>A p.M515I Missense 13/23 -
4-154415184-T-C KIAA0922 c.239+20144T>C - IntronicSNV - 3/34
1-76386305-A-G ASB17 c.681+1460T>C - IntronicSNV - 2/2
3-161221726-C-A OTOL1 c.1430C>A p.P477Q Missense 4/4 -
1-76384668-C-A ASB17 c.857G>T p.R286L Missense 3/3 -
1-76384668-C-G ASB17 c.857G>C p.R286P Missense 3/3 -
1-76384668-C-T ASB17 c.857G>A p.R286H Missense 3/3 -
19-1080377-G-A ARHGAP45 c.1827G>A p.R609= Synonymous 14/23 -
5-79616698-G-A SPZ1 c.664G>A p.E222K Missense 1/1 -
19-1080681-G-C ARHGAP45 c.1913G>C p.G638A Missense 16/23 -
19-1085950-G-A ARHGAP45 c.3356G>A p.R1119H Missense 23/23 -
19-1085950-G-T ARHGAP45 c.3356G>T p.R1119L Missense 23/23 -
17-80684784-G-A FN3KRP c.667G>A p.V223I Missense 6/6 -
5-79616936-A-G SPZ1 c.902A>G p.H301R Missense 1/1 -
19-1085811-G-A ARHGAP45 c.3217G>A p.G1073S Missense 23/23 -
19-1085811-G-T ARHGAP45 c.3217G>T p.G1073C Missense 23/23 -
17-58022872-C-T RPS6KB1 c.1333C>T p.P445S Missense 14/15 -
5-79616083-G-A SPZ1 c.49G>A p.V17I Missense 1/1 -
3-161220819-C-A OTOL1 c.523C>A p.P175T Missense 4/4 -
8-76476256-A-T HNF4G c.1293A>T p.Q431= Synonymous 10/10 -
19-1085863-A-G ARHGAP45 c.3269A>G p.E1090G Missense 23/23 -
20-17477592-C-T BFSP1 c.1033G>A p.G345S Missense 7/8 -
20-17479609-A-G BFSP1 c.812T>C p.I271T Missense 6/8 -
20-17475523-C-A BFSP1 c.1194G>T p.K398N Missense 8/8 -
3-161214827-G-A OTOL1 c.232G>A p.V78I Missense 1/4 -
20-17479685-T-C BFSP1 c.736A>G p.T246A Missense 6/8 -
17-42428954-G-C GRN c.970G>C p.A324P Missense 10/13 -
5-56207307-G-A SETD9 c.410G>A p.G137D Missense 2/6 -
5-56207307-G-C SETD9 c.410G>C p.G137A Missense 2/6 -
5-56207307-G-T SETD9 c.410G>T p.G137V Missense 2/6 -
5-79616278-A-G SPZ1 c.244A>G p.N82D Missense 1/1 -
16-2264249-C-A PGP c.530G>T p.S177I Missense 1/2 -
16-2264249-C-T PGP c.530G>A p.S177N Missense 1/2 -
3-161221705-A-T OTOL1 c.1409A>T p.E470V Missense 4/4 -
17-80674717-G-A FN3KRP c.86G>A p.R29Q Missense 1/6 -
17-80674717-G-T FN3KRP c.86G>T p.R29L Missense 1/6 -
3-161220921-G-A OTOL1 c.625G>A p.G209R Missense 4/4 -
19-45404058-C-T TOMM40 c.715C>T p.R239W Missense 6/9 -
17-80684432-A-G FN3KRP c.545A>G p.K182R Missense 5/6 -
20-17474942-G-A BFSP1 c.1775C>T p.A592V Missense 8/8 -
20-17474942-G-C BFSP1 c.1775C>G p.A592G Missense 8/8 -
5-79616573-C-A SPZ1 c.539C>A p.A180D Missense 1/1 -
17-80676855-A-T FN3KRP c.215A>T p.K72M Missense 2/6 -
16-2263836-C-G PGP c.859G>C p.G287R Missense 2/2 -
16-2263836-C-T PGP c.859G>A p.G287R Missense 2/2 -
16-2263822-A-C PGP c.873T>G p.N291K Missense 2/2 -
20-17505513-T-C BFSP1 c.418A>G p.M140V Missense 2/8 -
5-56209735-A-G SETD9 c.625A>G p.K209E Missense 4/6 -
8-76452313-G-A HNF4G c.116G>A p.S39N missense_variant,splice_region_variant 1/10 -
8-76471246-A-G HNF4G c.1097A>G p.N366S missense_variant 8/10 -
8-76471246-A-T HNF4G c.1097A>T p.N366I missense_variant 8/10 -
8-76470800-C-A HNF4G c.781C>A p.R261S missense_variant 7/10 -
8-76470800-C-T HNF4G c.781C>T p.R261C missense_variant 7/10 -
19-45410002-G-A APOE c.43+78G>A - IntronicSNV - 2/3
17-80685533-C-T FN3KRP c.*486C>T - 3-UTRSNV 6/6 -
19-45395266-G-A TOMM40 c.274+320G>A - IntronicSNV - 1/8
19-1068738-G-A ARHGAP45 c.416G>A p.R139H Missense 2/23 -
19-1068738-G-C ARHGAP45 c.416G>C p.R139P Missense 2/23 -
19-45411110-T-C APOE c.137T>C p.L46P Missense 3/4 -