PRKAR1A Mutation Database

cDNA	Protein	Location	Description	Type	Result	Expression
c.-97G>A	pseudo ATG	exon 1b	single base substitution	frameshift	frameshift	NMD	View Patients Remove Edit
c.1A>G	p.Met1Val	exon 2	single base substitution	missense	AA change	abloished initiation	View Patients Remove Edit
c.18delC	p.Ala7ProfsX122	exon 2	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.26G>A	p.Ser9Asn	exon 2	single base substitution	missense	AA change	altered protein	View Patients Remove Edit
c.43_58del16	p.Leu15SerfsX109	exon 2	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.52_53delTG	p.Cys18X	exon 2	deletion	non sense	direct stop codon generation	NMD	View Patients Remove Edit
c.54_55dupTG	p.Glu19ValfsX111	exon 2	duplication	frameshift	frameshift	NMD	View Patients Remove Edit
c.63_64delCGinsGA	p.Tyr21X	exon 2	indel	non sense	direct stop codon generation	NMD	View Patients Remove Edit
c.69_70dupGA	p.Lys24ArgfsX106	exon 2	duplication	frameshift	frameshift	NMD	View Patients Remove Edit
c.75_78dupTAAC	pIle27X	exon 2	duplication	non sense	direct stop codon generation	NMD	View Patients Remove Edit
c.82C>T	p.Gln28X	exon 2	single base substitution	non sense	direct stop codon generation	NMD	View Patients Remove Edit
c.85_95del11	p.Ala29ArgfsX12	exon 2	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.96_97insT	p.Asp33X	exon 2	insertion	non sense	direct stop codon generation	NMD	View Patients Remove Edit
c.101_105del5	p.Ser34CysfsX9	exon 2	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.109C>T	p.Gln37X	exon 2	single base substitution	non sense	direct stop codon generation	NMD	View Patients Remove Edit
c.124C>T	p.Arg42X	exon 2	single base substitution	non sense	direct stop codon generation	NMD	View Patients Remove Edit
c.140delT	p.Met47ArgfsX82	exon 2	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.178-2A>G	skips ex 3	intron 2	single base substitution	splice	shorter protein	shorter protein	View Patients Remove Edit
c.178_348del171	p.Glu60_Lys116del	intron 2	deletion	in-frame deletion	in-frame rearrangement	shorter protein	View Patients Remove Edit
c.187A>T	p.Lys63X	exon 3	single base substitution	non sense	direct stop codon generation	NMD	View Patients Remove Edit
c.190C>T	p.Gln64X	exon 3	single base substitution	non sense	direct stop codon generation	NMD	View Patients Remove Edit
c.205C>T	p.Gln69X	exon 3	single base substitution	non sense	direct stop codon generation	NMD	View Patients Remove Edit
c.206A>G	p.Gln69Arg	exon 3	single base substitution	missense	AA change	altered protein	View Patients Remove Edit
c.220_221delCG	p.Arg74TyrfsX7	exon 3	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.242delA	p.Glu81GlyfsX48	exon 3	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.267delA	p.Val90TrpfsX39	exon 3	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.279_282delTAGG	p.Arg94GlyfsX34	exon 3	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.286C>T	p.Arg96X	exon 3	single base substitution	non sense	direct stop codon generation	NMD	View Patients Remove Edit
c.289C>T	p.Arg97X	exon 3	single base substitution	non sense	direct stop codon generation	NMD	View Patients Remove Edit
c.316_317delAC	p.Thr106GlyfsX9	exon 3	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.319G>T	p.Glu107X	exon 3	single base substitution	non sense	direct stop codon generation	NMD	View Patients Remove Edit
c.340delG	p.Val114LeufsX15	exon 3	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.348+1G>C	retains intr 3	intron 3	single base substitution	splice	AA change	NMD	View Patients Remove Edit
c.350_353delTTAT	p.Val117AspfsX11	exon 4	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.353_365del13	p.lle118ThrfsX7	exon 4	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.407_408delTG	p.Val136AlafsX6	exon 4	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.408_412delGCTGT	p.Leu137PhefsX4	exon 4	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.418_419delCA	p.His140SerfsX2	exon 4	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.439A>G	p.Ser147Gly	exon 4	single base substitution	missense	AA change	altered protein	View Patients Remove Edit
c.440G>A	p.Ser147Asn	exon 4	single base substitution	missense	AA change	altered protein	View Patients Remove Edit
c.440+1G>A	retains part of intr 4	intron 4	single base substitution	splice	AA change	NMD	View Patients Remove Edit
c.440+1_440+2insG	retains part of intr 4	intron 4	insertion	splice	AA change	NMD	View Patients Remove Edit
c.440+2T>C	retains part of intr4	intron 4	single base substitution	splice	AA change	NMD	View Patients Remove Edit
c.440+4delG	retains part of intr 4	intron 4	deletion	splice	AA change	NMD	View Patients Remove Edit
c.463delT	p.Ser155ArgfsX10	exon 5	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.466delG	p.Val156SerfsX9	exon 5	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.496C>T	p.Gln166X	exon 5	single base substitution	non sense	direct stop codon generation	NMD	View Patients Remove Edit
c.499C>T*	p.Gln167X	exon 5	single base substitution	non sense	direct stop codon generation	NMD	View Patients Remove Edit
c.502G>A	p.Gly168Ser	exon 5	single base substitution	missense	AA change	altered protein	View Patients Remove Edit
c.502+1G>T	retains part of intr 5	intron 5	single base substitution	splice	AA change	NMD	View Patients Remove Edit
c.502+1G>T	retains part of intr 5	intron 5	single base substitution	splice	AA change	NMD	View Patients Remove Edit
c.528_531delGATTins11	p.lle177MetfsX13	exon 6	indel	frameshift	frameshift	NMD	View Patients Remove Edit
c.531_(549+32)del51	p.l177MetfsX1	exon 6	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.545dupC	p.Asp183GlyfsX5	exon 6	duplication	frameshift	frameshift	NMD	View Patients Remove Edit
c.547G>T	p.Asp183Tyr	exon 6	single base substitution	missense	AA change	altered protein	View Patients Remove Edit
c.550(-9-2)del8	skip ex 7	intron 6	deletion	splice	AA change	shorter protein	View Patients Remove Edit
c.550G>A	p.Val184lle	exon 7	single base substitution	missense	AA change	altered protein	View Patients Remove Edit
c.558_559dupTA	p.Asn187llefsX20	exon 7	duplication	frameshift	frameshift	NMD	View Patients Remove Edit
c.566_567delAAinsCAC	p.Glu189AlafsX44	exon 7	indel	frameshift	frameshift	NMD	View Patients Remove Edit
c.569G>A	p.Trp190X	exon 7	single base substitution	non sense	direct stop codon generation	NMD	View Patients Remove Edit
c.570G>A	p.Trp190X	exon 7	single base substitution	non sense	direct stop codon generation	NMD	View Patients Remove Edit
c.587_588insGG	p.Gly197GlufsX10	exon 7	insertion	frameshift	frameshift	NMD	View Patients Remove Edit
c.597delC	p.Phe200LeufsX6	exon 7	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.619delT	p.Tyr207MetfsX15	exon 7	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.623delG	p.Glyn208GlufsX14	exon 7	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.624dupA	p.Thr209AsnfsX24	exon 7	duplication	frameshift	frameshift	NMD	View Patients Remove Edit
c.638C>A*	p.Ala213Asp	exon 7	single base substitution	missense	AA change	altered protein	View Patients Remove Edit
c.652_653delAA	p.lys218AspfsX14	exon 7	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.658_659delAA	p.Asn220CysfsX12	exon 7	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.664A>T*	p.Lys222X	exon 7	single base substitution	non sense	direct stop codon generation	NMD	View Patients Remove Edit
c.669_670delGT	p.Trp224GlyfsX8	exon 7	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.671G>A	p.Trp224X	exon 7	single base substitution	non sense	direct stop codon generation	NMD	View Patients Remove Edit
c.672G>A	p.Trp224X	exon 7	single base substitution	non sense	direct stop codon generation	NMD	View Patients Remove Edit
c.679delG	p.Asp227ThrfsX14	exon 7	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.682C>T	p.Arg228X	exon 7	single base substitution	non sense	direct stop codon generation	NMD	View Patients Remove Edit
c.687delT*	p.Asp229GlufsX12	exon 7	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.693dupT	p.Arg232X	exon 7	duplication	non sense	direct stop codon generation	NMD	View Patients Remove Edit
c.708+1G>T	skip ex 7	intron 7	single base substitution	splice	AA change	shorter protein	View Patients Remove Edit
c.709(-107-5)del103	skips ex 8	intron 7	deletion	splice	AA change	NMD	View Patients Remove Edit
c.709(-7-2)del6	skips ex 8	intron 7	deletion	splice	AA change	NMD	View Patients Remove Edit
c.709-7G>A	skips ex 8	intron 7	single base substitution	splice	AA change	NMD	View Patients Remove Edit
c.711_712dupAA	p.Ser238LysfsX4	exon 8	duplication	frameshift	frameshift	NMD	View Patients Remove Edit
c.718dupC	p.Leu240ProfsX8	exon 8	duplication	frameshift	frameshift	NMD	View Patients Remove Edit
c.725dupA	p.Arg243AlafsX5	exon 8	duplication	frameshift	frameshift	NMD	View Patients Remove Edit
c.728_740del13	p.Lys244AsnfsX9	exon 8	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.738T>G	p.Tyr246X	exon 8	single base substitution	non sense	direct stop codon generation	NMD	View Patients Remove Edit
c.758_759delTC	p.Ser254TryfsX15	exon 8	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.763_764delAT	p.lle255PhefsX14	exon 8	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.764_768delTTTTA	p.lle255ArgfsX12	exon 8	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.769G>A	p.Glu257Lys	exon 8	single base substitution	missense	AA change	NMD	View Patients Remove Edit
c.769+5G>C	retains part of intr 8	intron 8	single base substitution	splice	AA change	NMD	View Patients Remove Edit
c.786_787delGGinsCT	p.Trp262CysfsX2	exon 9	indel	missense	AA change	NMD	View Patients Remove Edit
c.804dupT	p.Asp269X	exon 9	duplication	non sense	direct stop codon generation	NMD	View Patients Remove Edit
c.812dupT	p.Leu271PhefsX7	exon 9	duplication	frameshift	frameshift	NMD	View Patients Remove Edit
c.845_846insA	p.Val283CysfsX9	exon 9	insertion	frameshift	frameshift	NMD	View Patients Remove Edit
c.865G>T	p.Gly289Trp	exon 9	single base substitution	missense	AA change	altered protein	View Patients Remove Edit
c.891+3A>G	retains part of intr 9	intron 9	single base substitution	splice	AA change	skips ex 10	View Patients Remove Edit
c.892-2A>G	skips ex 10	intron 9	single base substitution	splice	AA change	skips ex 10	View Patients Remove Edit
c.910C>T	p.Gln304X	exon 10	single base substitution	non sense	direct stop codon generation	NMD	View Patients Remove Edit
c.920C>G	p.Ser307X	exon 10	single base substitution	non sense	direct stop codon generation	NMD	View Patients Remove Edit
c.963_985del23*	p.Asp322ThrfsX20	exon 10	deletion	frameshift	frameshift	NMD	View Patients Remove Edit
c.973+1G>A	retains part of intr 10	intron 10	single base substitution	splice	AA change	NMD	View Patients Remove Edit
c.974-1G>A*	skips ex 11	exon 11	single base substitution	splice	AA change	NMD	View Patients Remove Edit
c.1055_1058delGACC	p.Arg352LeufsX88	exon 11	deletion	frameshift	frameshift	elongated protein	View Patients Remove Edit
c.1067_1070delAACGinsGCCCA	p.Glu356GlyfsX71	exon 11	indel	frameshift	frameshift	elongated protein	View Patients Remove Edit
c.1083delA	p.Cys362AlafsX79	exon 11	deletion	frameshift	frameshift	elongated protein	View Patients Remove Edit
c.1131_1132delTG	p.Ser378ThrfsX48	exon 11	deletion	frameshift	frameshift	elongated protein	View Patients Remove Edit
c.1142_1145delTCTG	p.Val381GlufsX59	exon 11	deletion	frameshift	frameshift	elongated protein	View Patients Remove Edit
c.46C>T	p.Arg16X	exon 2	duplication	non-sense	premature stop codon	NMD	View Patients Remove Edit
c.177G>A	retains part of intron 2	exon 2	single base substitution	splice	retains part of intron 2, frameshift	NMD	View Patients Remove Edit
c.177+1G>A	retains part of intron 2	intron 2	single base substitution	splice	retains part of intron 2, frameshift	NMD	View Patients Remove Edit
c.220C>T	p.Arg74Cys	exon 3	single base substitution	missense	AA change	expressed	View Patients Remove Edit
c.438A>T	p.Arg146Ser	exon 4	single base substitution	missense	AA change	expressed	View Patients Remove Edit
c.491_492delTG	p.Val164AspfsX5	exon 5	deletion	non-sense	frameshift	NMD	View Patients Remove Edit
c.951delA	p.Arg317SerfsX14	exon 10	deletion	non-sense	frameshift	NMD	View Patients Remove Edit
c.1076_1077delTTinsAAATGGGCCAAGA	p.Leu359GlnfsX86	exon 11	indel	non-sense	frameshift, stop codon after the normal stop codon	elongated prot.	View Patients Remove Edit
c.177+3 A>G	retains part of intron 2	intron 2	single base substitution	splice	frameshift	NMD	View Patients Remove Edit