PMID: 24386135

A single-nucleotide polymorphism of human neuropeptide s gene originated from Europe shows decreased bioactivity.

PloS one
C Deng, X He, AJ Hsueh
2013

225 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
11-46744784-G-A F2 c.371G>A p.Arg124Gln Missense 5/14 -
9-5185367-T-C INSL6 c.236A>G p.Gln79Arg Missense 1/2 -
3-129695619-G-C TRH c.289G>C p.Val97Leu Missense 3/3 -
3-129695619-G-A TRH c.289G>A p.Val97Ile Missense 3/3 -
11-46747555-G-A F2 c.706G>A p.Ala236Thr Missense 7/14 -
12-21531283-G-A IAPP c.193G>A p.Val65Met Missense 3/3 -
12-86272290-G-A NTS c.303G>A p.Met101Ile Missense 3/4 -
10-129350856-G-A NPS c.223G>A p.Val75Ile Missense 3/3 -
10-129350856-G-C NPS c.223G>C p.Val75Leu Missense 3/3 -
16-67516959-T-C AGRP c.185A>G p.Asp62Gly Missense 3/4 -
20-3025330-G-T GNRH2 c.160G>T p.Ala54Ser Missense 3/4 -
9-5164007-C-T INSL6 c.548G>A p.Cys183Tyr Missense 2/2 -
12-21531251-A-T IAPP c.161A>T p.Asn54Ile Missense 3/3 -
16-67516562-T-C AGRP c.376A>G p.Met126Val Missense 4/4 -
2-25384360-G-C POMC c.394C>G p.Pro132Ala Missense 4/4 -
11-46748056-G-A F2 c.883G>A p.Val295Met Missense 8/14 -
2-25384360-G-T POMC c.394C>A p.Pro132Thr Missense 4/4 -
1-204159787-G-A KISS1 c.242C>T p.Pro81Leu Missense 3/3 -
11-46750998-A-G F2 c.1541A>G p.Asn514Ser Missense 12/14 -
18-908300-C-A ADCYAP1 c.277C>A p.Arg93Ser Missense 3/4 -
11-46750998-A-T F2 c.1541A>T p.Asn514Ile Missense 12/14 -
20-32850639-G-T ASIP c.162G>T p.Ala54Ala Synonymous 2/3 -
2-25384092-T-C POMC c.662A>G p.Tyr221Cys Missense 4/4 -
11-46749571-C-A F2 c.1156C>A p.Pro386Thr Missense 10/14 -
3-129695893-C-T TRH c.563C>T p.Pro188Leu Missense 3/3 -
12-102590804-A-G PMCH c.395T>C p.Ile132Thr Missense 2/3 -
7-150035752-C-A RARRES2 c.454G>T p.Gly152* Nonsense 5/6 -
17-42018863-G-A PPY c.160C>T p.Arg54Cys Missense 2/4 -
3-129695730-C-T TRH c.400C>T p.Arg134Trp Missense 3/3 -
12-53900836-G-A NPFF c.193C>T p.Arg65Trp Missense 2/3 -
1-67266756-T-A INSL5 c.149A>T p.Gln50Leu Missense 1/2 -
1-41949761-C-A EDN2 c.178G>T p.Val60Phe Missense 2/5 -
10-5416128-G-A UCN3 c.445G>A p.Ala149Thr Missense 2/2 -
1-204159922-T-C KISS1 c.107A>G p.Gln36Arg Missense 3/3 -
1-41949761-C-T EDN2 c.178G>A p.Val60Ile Missense 2/5 -
1-67263820-C-T INSL5 c.284G>A p.Gly95Asp Missense 2/2 -
9-5185335-G-C INSL6 c.268C>G p.Arg90Gly Missense 1/2 -
9-5231605-C-G INSL4 c.82C>G p.Leu28Val Missense 1/2 -
7-150037293-G-T RARRES2 c.175C>A p.Pro59Thr Missense 3/6 -
9-5233848-G-A INSL4 c.391G>A p.Asp131Asn Missense 2/2 -
12-53900577-G-T NPFF c.325C>A p.Arg109Ser Missense 3/3 -
12-53900577-G-A NPFF c.325C>T p.Arg109Cys Missense 3/3 -
9-5233848-G-T INSL4 c.391G>T p.Asp131Tyr Missense 2/2 -
9-5231699-T-C INSL4 c.176T>C p.Leu59Pro Missense 1/2 -
11-46741363-C-T F2 c.191C>T p.Thr64Met Missense 2/14 -
11-46750986-C-A F2 c.1529C>A p.Thr510Lys Missense 12/14 -
1-67263892-C-T INSL5 c.212G>A p.Arg71His Missense 2/2 -
20-3025390-C-G GNRH2 c.220C>G p.Leu74Val Missense 3/4 -
2-25387515-G-T POMC c.127C>A p.Leu43Met Missense 3/4 -
9-5231628-T-G INSL4 c.105T>G p.Phe35Leu Missense 1/2 -
3-129695730-C-G TRH c.400C>G p.Arg134Gly Missense 3/3 -
20-3025214-G-C GNRH2 c.154G>C p.Gly52Arg Missense 2/4 -
3-10331447-C-T GHRL c.224G>A p.Arg75Gln Missense 4/6 -
20-3025214-G-A GNRH2 c.154G>A p.Gly52Arg Missense 2/4 -
1-67266824-T-A INSL5 c.81A>T p.Arg27Ser Missense 1/2 -
11-46747567-G-A F2 c.718G>A p.Ala240Thr Missense 7/14 -
3-71821933-G-T PROK2 c.332C>A p.Pro111Gln Missense 4/4 -
20-35882704-C-T GHRH c.217G>A p.Ala73Thr Missense 3/4 -
12-86268253-A-G NTS c.72A>G p.Ser24Ser Synonymous 1/4 -
1-204159787-G-C KISS1 c.242C>G p.Pro81Arg Missense 3/3 -
12-86272290-G-T NTS c.303G>T p.Met101Ile Missense 3/4 -
11-46747497-T-C F2 c.648T>C p.Asp216Asp Synonymous 7/14 -
11-46747497-T-A F2 c.648T>A p.Asp216Glu Missense 7/14 -
11-46747497-T-G F2 c.648T>G p.Asp216Glu Missense 7/14 -
1-41949796-C-T EDN2 c.143G>A p.Arg48His Missense 2/5 -
1-110996652-C-A PROK1 c.142C>A p.Arg48Arg Synonymous 2/3 -
11-46750281-C-A F2 c.1366C>A p.Arg456Arg Synonymous 11/14 -
1-204159922-T-A KISS1 c.107A>T p.Gln36Leu Missense 3/3 -
8-28196857-T-G PNOC c.427T>G p.Leu143Val Missense 3/4 -
11-13514155-T-C PTH c.145A>G p.Met49Val Missense 3/3 -
9-5185542-G-A INSL6 c.61C>T p.Arg21Cys Missense 1/2 -
1-7907852-C-A UTS2 c.349G>T p.Asp117Tyr Missense 4/4 -
12-28116467-G-A PTHLH c.338C>T p.Thr113Met Missense 5/6 -
20-3063700-G-A AVP c.245C>T p.Pro82Leu Missense 2/3 -
9-5185460-G-A INSL6 c.143C>T p.Ala48Val Missense 1/2 -
11-10328015-G-A ADM c.385G>A p.Asp129Asn Missense 4/4 -
8-25276976-C-G GNRH1 c.238G>C p.Glu80Gln Missense 4/4 -
17-42018847-A-G PPY c.176T>C p.Met59Thr Missense 2/4 -
16-67516977-G-T AGRP c.167C>A p.Ala56Glu Missense 3/4 -
9-5185460-G-C INSL6 c.143C>G p.Ala48Gly Missense 1/2 -
10-5416075-T-C UCN3 c.392T>C p.Met131Thr Missense 2/2 -
17-42018886-A-G PPY c.137T>C p.Met46Thr Missense 2/4 -
9-5164094-T-A INSL6 c.461A>T p.Lys154Ile Missense 2/2 -
3-71821969-A-G PROK2 c.296T>C p.Phe99Ser Missense 4/4 -
11-46751004-G-C F2 c.1547G>C p.Gly516Ala Missense 12/14 -
12-28116544-G-T PTHLH c.261C>A p.Asn87Lys Missense 5/6 -
3-42299655-G-C CCK c.283C>G p.Arg95Gly Missense 5/5 -
20-3065244-G-A AVP c.77C>T p.Pro26Leu Missense 1/3 -
12-21531196-A-T IAPP c.106A>T p.Asn36Tyr Missense 3/3 -
11-14990384-G-T CALCA c.387C>A p.Asp129Glu Missense 4/4 -
2-25384320-C-A POMC c.434G>T p.Arg145Leu Missense 4/4 -
11-46745003-C-G F2 c.494C>G p.Thr165Arg Missense 6/14 -
20-1961108-C-T PDYN c.626G>A p.Gly209Asp Missense 3/3 -
20-1961097-G-A PDYN c.637C>T p.Arg213Cys Missense 3/3 -
2-25384320-C-T POMC c.434G>A p.Arg145His Missense 4/4 -
11-46745003-C-T F2 c.494C>T p.Thr165Met Missense 6/14 -
2-101097609-C-A NMS c.394C>A p.Arg132Arg Synonymous 8/10 -
20-1961022-T-C PDYN c.712A>G p.Thr238Ala Missense 3/3 -
11-14990384-G-A CALCA c.387C>T p.Asp129Asp Synonymous 4/4 -
9-5233699-C-T INSL4 c.242C>T p.Thr81Met Missense 2/2 -
1-204161947-C-T KISS1 c.58G>A p.Glu20Lys Missense 2/3 -
18-908289-A-G ADCYAP1 c.266A>G p.Asn89Ser Missense 3/4 -
2-25383970-C-T POMC c.784G>A p.Ala262Thr Missense 4/4 -
1-110996592-C-T PROK1 c.82C>T p.Arg28Trp Missense 2/3 -
3-129694771-G-T TRH c.112G>T p.Glu38* Nonsense 2/3 -
20-3025167-G-A GNRH2 c.107G>A p.Arg36Gln Missense 2/4 -
9-5185470-A-T INSL6 c.133T>A p.Cys45Ser Missense 1/2 -
2-25384171-C-T POMC c.583G>A p.Ala195Thr Missense 4/4 -
11-14990392-C-T CALCA c.379G>A p.Glu127Lys Missense 4/4 -
3-129695892-C-T TRH c.562C>T p.Pro188Ser Missense 3/3 -
11-14990392-C-A CALCA c.379G>T p.Glu127* Nonsense 4/4 -
12-86272298-T-C NTS c.311T>C p.Ile104Thr Missense 3/4 -
9-5231699-T-A INSL4 c.176T>A p.Leu59Gln Missense 1/2 -
9-5185338-C-G INSL6 c.265G>C p.Ala89Pro Missense 1/2 -
9-5185338-C-A INSL6 c.265G>T p.Ala89Ser Missense 1/2 -
3-129696007-G-A TRH c.677G>A p.Arg226Gln Missense 3/3 -
3-129696007-G-C TRH c.677G>C p.Arg226Pro Missense 3/3 -
3-129695578-G-C TRH c.248G>C p.Arg83Pro Missense 3/3 -
3-129695578-G-A TRH c.248G>A p.Arg83His Missense 3/3 -
12-86276040-A-C NTS c.400A>C p.Asn134His Missense 4/4 -
12-86270455-C-A NTS c.111C>A p.Phe37Leu Missense 2/4 -
11-46744960-G-A F2 c.451G>A p.Asp151Asn Missense 6/14 -
20-35882698-G-A GHRH c.223C>T p.Leu75Phe Missense 3/4 -
6-33768867-G-C MLN c.74C>G p.Ala25Gly Missense 2/5 -
6-33768867-G-A MLN c.74C>T p.Ala25Val Missense 2/5 -
9-5185338-C-T INSL6 c.265G>A p.Ala89Thr Missense 1/2 -
12-102591461-T-C PMCH c.88A>G p.Ile30Val Missense 1/3 -
9-5231609-G-C INSL4 c.86G>C p.Arg29Thr Missense 1/2 -
18-908295-C-T ADCYAP1 c.272C>T p.Ala91Val Missense 3/4 -
11-13514173-C-G PTH c.127G>C p.Gly43Arg Missense 3/3 -
11-46750281-C-T F2 c.1366C>T p.Arg456Trp Missense 11/14 -
12-102590880-C-T PMCH c.319G>A p.Ala107Thr Missense 2/3 -
1-110998854-G-A PROK1 c.199G>A p.Val67Ile Missense 3/3 -
1-110996592-C-G PROK1 c.82C>G p.Arg28Gly Missense 2/3 -
12-102591332-A-G PMCH c.217T>C p.Phe73Leu Missense 1/3 -
2-25384113-T-C POMC c.641A>G p.Glu214Gly Missense 4/4 -
2-101098740-C-T NMS c.416C>T p.Pro139Leu Missense 9/10 -
11-46751004-G-T F2 c.1547G>T p.Gly516Val Missense 12/14 -
9-5164151-T-C INSL6 c.404A>G p.His135Arg Missense 2/2 -
20-3025200-C-T GNRH2 c.140C>T p.Ala47Val Missense 2/4 -
11-14990361-G-A CALCA c.410C>T p.Pro137Leu Missense 4/4 -
11-46749692-T-A F2 c.1277T>A p.Ile426Asn Missense 10/14 -
3-71821964-G-A PROK2 c.301C>T p.Arg101Trp Missense 4/4 -
12-86272177-C-A NTS c.190C>A p.Leu64Ile Missense 3/4 -
1-67266823-G-A INSL5 c.82C>T p.Leu28Phe Missense 1/2 -
3-129695609-G-T TRH c.279G>T p.Glu93Asp Missense 3/3 -
9-5233855-C-A INSL4 c.398C>A p.Thr133Asn Missense 2/2 -
11-13514097-A-C PTH c.203T>G p.Leu68Arg Missense 3/3 -
12-102591323-C-T PMCH c.226G>A p.Glu76Lys Missense 1/3 -
1-110996652-C-T PROK1 c.142C>T p.Arg48Trp Missense 2/3 -
11-13514097-A-G PTH c.203T>C p.Leu68Pro Missense 3/3 -
2-25384086-A-G POMC c.668T>C p.Met223Thr Missense 4/4 -
1-67263829-C-T INSL5 c.275G>A p.Arg92His Missense 2/2 -
20-35884879-T-A GHRH c.106A>T p.Ile36Phe Missense 2/4 -
20-35884879-T-C GHRH c.106A>G p.Ile36Val Missense 2/4 -
11-46747441-C-T F2 c.592C>T p.Arg198Cys Missense 7/14 -
9-5231717-A-G INSL4 c.194A>G p.Lys65Arg Missense 1/2 -
3-129695779-A-C TRH c.449A>C p.Lys150Thr Missense 3/3 -
9-5164260-T-G INSL6 c.295A>C p.Thr99Pro Missense 2/2 -
3-71821955-G-A PROK2 c.310C>T p.His104Tyr Missense 4/4 -
9-5164260-T-C INSL6 c.295A>G p.Thr99Ala Missense 2/2 -
9-5164260-T-A INSL6 c.295A>T p.Thr99Ser Missense 2/2 -
7-150035804-C-G RARRES2 c.402G>C p.Gln134His Missense 5/6 -
3-129695682-C-T TRH c.352C>T p.Arg118* Nonsense 3/3 -
11-46750986-C-T F2 c.1529C>T p.Thr510Met Missense 12/14 -
9-5185365-A-G INSL6 c.238T>C p.Phe80Leu Missense 1/2 -
3-42299655-G-A CCK c.283C>T p.Arg95Trp Missense 5/5 -
20-1961099-C-T PDYN c.635G>A p.Arg212Gln Missense 3/3 -
3-129695938-A-G TRH c.608A>G p.Tyr203Cys Missense 3/3 -
7-150035788-G-A RARRES2 c.418C>T p.Arg140Trp Missense 5/6 -
7-150035788-G-C RARRES2 c.418C>G p.Arg140Gly Missense 5/6 -
9-5233738-A-G INSL4 c.281A>G p.Lys94Arg Missense 2/2 -
9-5164076-T-C INSL6 c.479A>G p.Asn160Ser Missense 2/2 -
9-5164094-T-C INSL6 c.461A>G p.Lys154Arg Missense 2/2 -
1-7907852-C-T UTS2 c.349G>A p.Asp117Asn Missense 4/4 -
1-67266805-T-C INSL5 c.100A>G p.Ile34Val Missense 1/2 -
12-102590861-G-A PMCH c.338C>T p.Ala113Val Missense 2/3 -
12-53900677-C-T NPFF c.225G>A p.Arg75Arg Synonymous 3/3 -
12-86272250-A-T NTS c.263A>T p.Lys88Ile Missense 3/4 -
11-14990404-A-T CALCA c.367T>A p.Ser123Thr Missense 4/4 -
12-53900677-C-G NPFF c.225G>C p.Arg75Ser Missense 3/3 -
20-3025330-G-A GNRH2 c.160G>A p.Ala54Thr Missense 3/4 -
20-3025206-G-C GNRH2 c.146G>C p.Arg49Thr Missense 2/4 -
3-42299673-T-C CCK c.265A>G p.Ser89Gly Missense 5/5 -
10-129350889-A-G NPS c.256A>G p.Arg86Gly Missense 3/3 -
11-46742091-T-C F2 c.259T>C p.Tyr87His Missense 3/14 -
9-5185512-T-C INSL6 c.91A>G p.Lys31Glu Missense 1/2 -
7-150037550-G-T RARRES2 c.149C>A p.Thr50Asn Missense 2/6 -
11-46749562-C-T F2 c.1147C>T p.Arg383Trp Missense 10/14 -
9-5231657-T-C INSL4 c.134T>C p.Met45Thr Missense 1/2 -
17-42018835-G-A PPY c.188C>T p.Pro63Leu Missense 2/4 -
11-46749692-T-C F2 c.1277T>C p.Ile426Thr Missense 10/14 -
8-25280706-C-G GNRH1 c.141G>C p.Glu47Asp Missense 2/4 -
7-150036076-C-T RARRES2 c.374G>A p.Arg125Gln Missense 4/6 -
20-35884879-T-G GHRH c.106A>C p.Ile36Leu Missense 2/4 -
20-3065216-G-A AVP c.105C>T p.Asp35Asp Synonymous 1/3 -
20-32850639-G-A ASIP c.162G>A p.Ala54Ala Synonymous 2/3 -
16-67517173-T-C AGRP c.129A>G p.Pro43Pro Synonymous 2/4 -
20-3025472-G-A GNRH2 c.302G>A p.Arg101Gln Missense 3/4 -
1-230846470-G-A AGT c.127C>T p.Leu43Phe Missense 2/5 -
11-46750282-G-A F2 c.1367G>A p.Arg456Gln Missense 11/14 -
11-46750282-G-C F2 c.1367G>C p.Arg456Pro Missense 11/14 -
7-150036166-T-C RARRES2 c.284A>G p.Lys95Arg Missense 4/6 -
20-3065216-G-C AVP c.105C>G p.Asp35Glu Missense 1/3 -
11-46760911-C-T F2 c.1822C>T p.Arg608Cys Missense 14/14 -
1-110996653-G-A PROK1 c.143G>A p.Arg48Gln Missense 2/3 -
2-25384150-G-A POMC c.604C>T p.Gln202* Nonsense 4/4 -
6-33766988-C-T MLN c.128G>A p.Arg43Gln Missense 3/5 -
1-67263817-C-G INSL5 c.287G>C p.Gly96Ala Missense 2/2 -
20-32848309-C-A ASIP c.129C>A p.Asn43Lys Missense 1/3 -
9-5185335-G-A INSL6 c.268C>T p.Arg90Trp Missense 1/2 -
3-129695809-A-T TRH c.479A>T p.Asp160Val Missense 3/3 -
3-71830710-T-C PROK2 c.130A>G p.Met44Val Missense 2/4 -
9-5231609-G-A INSL4 c.86G>A p.Arg29Lys Missense 1/2 -
9-5233688-A-T INSL4 c.231A>T p.Gln77His Missense 2/2 -
2-101097618-T-C NMS c.403T>C p.Phe135Leu Missense 8/10 -
2-101097609-C-T NMS c.394C>T p.Arg132* Nonsense 8/10 -
9-5185368-G-A INSL6 c.235C>T p.Gln79* Nonsense 1/2 -
9-5185368-G-C INSL6 c.235C>G p.Gln79Glu Missense 1/2 -
9-5164222-C-A INSL6 c.333G>T p.Gln111His Missense 2/2 -
11-46751085-G-A F2 c.1628G>A p.Arg543His Missense 12/14 -
3-129696006-C-T TRH c.676C>T p.Arg226Trp Missense 3/3 -
2-25384596-T-C POMC c.158A>G p.Asp53Gly Missense 4/4 -
2-25384596-T-G POMC c.158A>C p.Asp53Ala Missense 4/4 -
11-46751085-G-T F2 c.1628G>T p.Arg543Leu Missense 12/14 -