| Transcript | Gene symbol | Prediction | Tree vote | Model | Prediction problem | Splice site change | Known ClinVar disease mutation | Potential ClinVar disease mutation | Amino acid changes | Variant type | dbSNP ID | Protein length | Features at a glance |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000331920(MANE Select) | PTCH1 | Deleterious | 64|36 | simple_ | No | Single base exchange | Normal |
| |||||
ENST00000437951(MANE Select) | PTCH1 | Deleterious | 66|34 | simple_ | No | Single base exchange | Normal |
| |||||
| PTCH1 | Deleterious | 67|33 | simple_ | No | Single base exchange | Normal |
| ||||||
| PTCH1 | Deleterious | 70|30 | simple_ | No | Single base exchange | Normal |
| ||||||
| PTCH1 | Deleterious | 70|30 | simple_ | No | Single base exchange | Normal |
| ||||||
| PTCH1 | Deleterious | 98|2 | simple_ | No | Single base exchange | Normal |
|
| Analysed issue | Analysis result | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr9:95456341C>T (GRCh38) | |||||||||||||||||||||
| Gene symbol | PTCH1 | |||||||||||||||||||||
| Gene constraints | LOEUF: 0.15, LOF (oe): 0.09, misssense (oe): 0.81, synonymous (oe): 1.01 (gnomAD) | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000331920.11 | |||||||||||||||||||||
| Genbank transcript ID | NM_000264 (exact from MANE), NM_001354918 (by similarity) | |||||||||||||||||||||
| UniProt / AlphaMissense peptide | PTC1_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.3241G>A g.60717G>A | |||||||||||||||||||||
| AA changes |
| |||||||||||||||||||||
| Frameshift | No | |||||||||||||||||||||
| Length of protein | Normal | |||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||||||||||
| Variant DBs |
| |||||||||||||||||||||
| Protein conservation | ||||||||||||||||||||||
| Protein features |
| |||||||||||||||||||||
| Phylogenetic conservation |
| |||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||||||||||
| Distance from splice site | N/A | |||||||||||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||||||||||
| poly(A) signal | N/A | |||||||||||||||||||||
| AA sequence altered | Yes | |||||||||||||||||||||
| Chromosome | 9 | |||||||||||||||||||||
| Strand | -1 | |||||||||||||||||||||
| Original gDNA sequence snippet | TCGGAATCAAGCTCAGTGCCGTGCCCGTGGTCATCCTGATC | |||||||||||||||||||||
| Altered gDNA sequence snippet | TCGGAATCAAGCTCAGTGCCATGCCCGTGGTCATCCTGATC | |||||||||||||||||||||
| Original cDNA sequence snippet | TCGGAATCAAGCTCAGTGCCGTGCCCGTGGTCATCCTGATC | |||||||||||||||||||||
| Altered cDNA sequence snippet | TCGGAATCAAGCTCAGTGCCATGCCCGTGGTCATCCTGATC | |||||||||||||||||||||
| Wildtype AA sequence | MASAGNAAEP QDRGGGGSGC IGAPGRPAGG GRRRRTGGLR RAAAPDRDYL HRPSYCDAAF ALEQISKGKA TGRKAPLWLR AKFQRLLFKL GCYIQKNCGK FLVVGLLIFG AFAVGLKAAN LETNVEELWV EVGGRVSREL NYTRQKIGEE AMFNPQLMIQ TPKEEGANVL TTEALLQHLD SALQASRVHV YMYNRQWKLE HLCYKSGELI TETGYMDQII EYLYPCLIIT PLDCFWEGAK LQSGTAYLLG KPPLRWTNFD PLEFLEELKK INYQVDSWEE MLNKAEVGHG YMDRPCLNPA DPDCPATAPN KNSTKPLDMA LVLNGGCHGL SRKYMHWQEE LIVGGTVKNS TGKLVSAHAL QTMFQLMTPK QMYEHFKGYE YVSHINWNED KAAAILEAWQ RTYVEVVHQS VAQNSTQKVL SFTTTTLDDI LKSFSDVSVI RVASGYLLML AYACLTMLRW DCSKSQGAVG LAGVLLVALS VAAGLGLCSL IGISFNAATT QVLPFLALGV GVDDVFLLAH AFSETGQNKR IPFEDRTGEC LKRTGASVAL TSISNVTAFF MAALIPIPAL RAFSLQAAVV VVFNFAMVLL IFPAILSMDL YRREDRRLDI FCCFTSPCVS RVIQVEPQAY TDTHDNTRYS PPPPYSSHSF AHETQITMQS TVQLRTEYDP HTHVYYTTAE PRSEISVQPV TVTQDTLSCQ SPESTSSTRD LLSQFSDSSL HCLEPPCTKW TLSSFAEKHY APFLLKPKAK VVVIFLFLGL LGVSLYGTTR VRDGLDLTDI VPRETREYDF IAAQFKYFSF YNMYIVTQKA DYPNIQHLLY DLHRSFSNVK YVMLEENKQL PKMWLHYFRD WLQGLQDAFD SDWETGKIMP NNYKNGSDDG VLAYKLLVQT GSRDKPIDIS QLTKQRLVDA DGIINPSAFY IYLTAWVSND PVAYAASQAN IRPHRPEWVH DKADYMPETR LRIPAAEPIE YAQFPFYLNG LRDTSDFVEA IEKVRTICSN YTSLGLSSYP NGYPFLFWEQ YIGLRHWLLL FISVVLACTF LVCAVFLLNP WTAGIIVMVL ALMTVELFGM MGLIGIKLSA VPVVILIASV GIGVEFTVHV ALAFLTAIGD KNRRAVLALE HMFAPVLDGA VSTLLGVLML AGSEFDFIVR YFFAVLAILT ILGVLNGLVL LPVLLSFFGP YPEVSPANGL NRLPTPSPEP PPSVVRFAMP PGHTHSGSDS SDSEYSSQTT VSGLSEELRH YEAQQGAGGP AHQVIVEATE NPVFAHSTVV HPESRHHPPS NPRQQPHLDS GSLPPGRQGQ QPRRDPPREG LWPPPYRPRR DAFEISTEGH SGPSNRARWG PRGARSHNPR NPASTAMGSS VPGYCQPITT VTASASVTVA VHPPPVPGPG RNPRGGLCPG YPETDHGLFE DPHVPFHVRC ERRDSKVEVI ELQDVECEER PRGSSSN* | |||||||||||||||||||||
| Mutated AA sequence | MASAGNAAEP QDRGGGGSGC IGAPGRPAGG GRRRRTGGLR RAAAPDRDYL HRPSYCDAAF ALEQISKGKA TGRKAPLWLR AKFQRLLFKL GCYIQKNCGK FLVVGLLIFG AFAVGLKAAN LETNVEELWV EVGGRVSREL NYTRQKIGEE AMFNPQLMIQ TPKEEGANVL TTEALLQHLD SALQASRVHV YMYNRQWKLE HLCYKSGELI TETGYMDQII EYLYPCLIIT PLDCFWEGAK LQSGTAYLLG KPPLRWTNFD PLEFLEELKK INYQVDSWEE MLNKAEVGHG YMDRPCLNPA DPDCPATAPN KNSTKPLDMA LVLNGGCHGL SRKYMHWQEE LIVGGTVKNS TGKLVSAHAL QTMFQLMTPK QMYEHFKGYE YVSHINWNED KAAAILEAWQ RTYVEVVHQS VAQNSTQKVL SFTTTTLDDI LKSFSDVSVI RVASGYLLML AYACLTMLRW DCSKSQGAVG LAGVLLVALS VAAGLGLCSL IGISFNAATT QVLPFLALGV GVDDVFLLAH AFSETGQNKR IPFEDRTGEC LKRTGASVAL TSISNVTAFF MAALIPIPAL RAFSLQAAVV VVFNFAMVLL IFPAILSMDL YRREDRRLDI FCCFTSPCVS RVIQVEPQAY TDTHDNTRYS PPPPYSSHSF AHETQITMQS TVQLRTEYDP HTHVYYTTAE PRSEISVQPV TVTQDTLSCQ SPESTSSTRD LLSQFSDSSL HCLEPPCTKW TLSSFAEKHY APFLLKPKAK VVVIFLFLGL LGVSLYGTTR VRDGLDLTDI VPRETREYDF IAAQFKYFSF YNMYIVTQKA DYPNIQHLLY DLHRSFSNVK YVMLEENKQL PKMWLHYFRD WLQGLQDAFD SDWETGKIMP NNYKNGSDDG VLAYKLLVQT GSRDKPIDIS QLTKQRLVDA DGIINPSAFY IYLTAWVSND PVAYAASQAN IRPHRPEWVH DKADYMPETR LRIPAAEPIE YAQFPFYLNG LRDTSDFVEA IEKVRTICSN YTSLGLSSYP NGYPFLFWEQ YIGLRHWLLL FISVVLACTF LVCAVFLLNP WTAGIIVMVL ALMTVELFGM MGLIGIKLSA MPVVILIASV GIGVEFTVHV ALAFLTAIGD KNRRAVLALE HMFAPVLDGA VSTLLGVLML AGSEFDFIVR YFFAVLAILT ILGVLNGLVL LPVLLSFFGP YPEVSPANGL NRLPTPSPEP PPSVVRFAMP PGHTHSGSDS SDSEYSSQTT VSGLSEELRH YEAQQGAGGP AHQVIVEATE NPVFAHSTVV HPESRHHPPS NPRQQPHLDS GSLPPGRQGQ QPRRDPPREG LWPPPYRPRR DAFEISTEGH SGPSNRARWG PRGARSHNPR NPASTAMGSS VPGYCQPITT VTASASVTVA VHPPPVPGPG RNPRGGLCPG YPETDHGLFE DPHVPFHVRC ERRDSKVEVI ELQDVECEER PRGSSSN* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 4344 / 4344 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1448 / 1448 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 5249 / 5249 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 906 / 906 | |||||||||||||||||||||
| Last intron/exon boundary | 5250 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 4294 | |||||||||||||||||||||
| Length of CDS | 4344 | |||||||||||||||||||||
| Coding sequence (CDS) position | 3241 | |||||||||||||||||||||
| cDNA position | 4146 | |||||||||||||||||||||
| gDNA position | 60717 | |||||||||||||||||||||
| Chromosomal position | 95456341 | |||||||||||||||||||||
| Speed | 0.12 s | |||||||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr9:95456341C>T (GRCh38) | ||||||||||||||||
| Gene symbol | PTCH1 | ||||||||||||||||
| Gene constraints | LOEUF: 0.16, LOF (oe): 0.10, misssense (oe): 0.80, synonymous (oe): 1.01 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000437951.6 | ||||||||||||||||
| Genbank transcript ID | NM_001083603 (exact from MANE) | ||||||||||||||||
| UniProt / AlphaMissense peptide | PTC1_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.3238G>A g.60717G>A | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 9 | ||||||||||||||||
| Strand | -1 | ||||||||||||||||
| Original gDNA sequence snippet | TCGGAATCAAGCTCAGTGCCGTGCCCGTGGTCATCCTGATC | ||||||||||||||||
| Altered gDNA sequence snippet | TCGGAATCAAGCTCAGTGCCATGCCCGTGGTCATCCTGATC | ||||||||||||||||
| Original cDNA sequence snippet | TCGGAATCAAGCTCAGTGCCGTGCCCGTGGTCATCCTGATC | ||||||||||||||||
| Altered cDNA sequence snippet | TCGGAATCAAGCTCAGTGCCATGCCCGTGGTCATCCTGATC | ||||||||||||||||
| Wildtype AA sequence | MELLNRNRLV IVSPRCTPPK ASGGPARRGF YTFRSFCKDG GGGEEEEENG GEEKDDRGDK ETRSDKGKAT GRKAPLWLRA KFQRLLFKLG CYIQKNCGKF LVVGLLIFGA FAVGLKAANL ETNVEELWVE VGGRVSRELN YTRQKIGEEA MFNPQLMIQT PKEEGANVLT TEALLQHLDS ALQASRVHVY MYNRQWKLEH LCYKSGELIT ETGYMDQIIE YLYPCLIITP LDCFWEGAKL QSGTAYLLGK PPLRWTNFDP LEFLEELKKI NYQVDSWEEM LNKAEVGHGY MDRPCLNPAD PDCPATAPNK NSTKPLDMAL VLNGGCHGLS RKYMHWQEEL IVGGTVKNST GKLVSAHALQ TMFQLMTPKQ MYEHFKGYEY VSHINWNEDK AAAILEAWQR TYVEVVHQSV AQNSTQKVLS FTTTTLDDIL KSFSDVSVIR VASGYLLMLA YACLTMLRWD CSKSQGAVGL AGVLLVALSV AAGLGLCSLI GISFNAATTQ VLPFLALGVG VDDVFLLAHA FSETGQNKRI PFEDRTGECL KRTGASVALT SISNVTAFFM AALIPIPALR AFSLQAAVVV VFNFAMVLLI FPAILSMDLY RREDRRLDIF CCFTSPCVSR VIQVEPQAYT DTHDNTRYSP PPPYSSHSFA HETQITMQST VQLRTEYDPH THVYYTTAEP RSEISVQPVT VTQDTLSCQS PESTSSTRDL LSQFSDSSLH CLEPPCTKWT LSSFAEKHYA PFLLKPKAKV VVIFLFLGLL GVSLYGTTRV RDGLDLTDIV PRETREYDFI AAQFKYFSFY NMYIVTQKAD YPNIQHLLYD LHRSFSNVKY VMLEENKQLP KMWLHYFRDW LQGLQDAFDS DWETGKIMPN NYKNGSDDGV LAYKLLVQTG SRDKPIDISQ LTKQRLVDAD GIINPSAFYI YLTAWVSNDP VAYAASQANI RPHRPEWVHD KADYMPETRL RIPAAEPIEY AQFPFYLNGL RDTSDFVEAI EKVRTICSNY TSLGLSSYPN GYPFLFWEQY IGLRHWLLLF ISVVLACTFL VCAVFLLNPW TAGIIVMVLA LMTVELFGMM GLIGIKLSAV PVVILIASVG IGVEFTVHVA LAFLTAIGDK NRRAVLALEH MFAPVLDGAV STLLGVLMLA GSEFDFIVRY FFAVLAILTI LGVLNGLVLL PVLLSFFGPY PEVSPANGLN RLPTPSPEPP PSVVRFAMPP GHTHSGSDSS DSEYSSQTTV SGLSEELRHY EAQQGAGGPA HQVIVEATEN PVFAHSTVVH PESRHHPPSN PRQQPHLDSG SLPPGRQGQQ PRRDPPREGL WPPPYRPRRD AFEISTEGHS GPSNRARWGP RGARSHNPRN PASTAMGSSV PGYCQPITTV TASASVTVAV HPPPVPGPGR NPRGGLCPGY PETDHGLFED PHVPFHVRCE RRDSKVEVIE LQDVECEERP RGSSSN* | ||||||||||||||||
| Mutated AA sequence | MELLNRNRLV IVSPRCTPPK ASGGPARRGF YTFRSFCKDG GGGEEEEENG GEEKDDRGDK ETRSDKGKAT GRKAPLWLRA KFQRLLFKLG CYIQKNCGKF LVVGLLIFGA FAVGLKAANL ETNVEELWVE VGGRVSRELN YTRQKIGEEA MFNPQLMIQT PKEEGANVLT TEALLQHLDS ALQASRVHVY MYNRQWKLEH LCYKSGELIT ETGYMDQIIE YLYPCLIITP LDCFWEGAKL QSGTAYLLGK PPLRWTNFDP LEFLEELKKI NYQVDSWEEM LNKAEVGHGY MDRPCLNPAD PDCPATAPNK NSTKPLDMAL VLNGGCHGLS RKYMHWQEEL IVGGTVKNST GKLVSAHALQ TMFQLMTPKQ MYEHFKGYEY VSHINWNEDK AAAILEAWQR TYVEVVHQSV AQNSTQKVLS FTTTTLDDIL KSFSDVSVIR VASGYLLMLA YACLTMLRWD CSKSQGAVGL AGVLLVALSV AAGLGLCSLI GISFNAATTQ VLPFLALGVG VDDVFLLAHA FSETGQNKRI PFEDRTGECL KRTGASVALT SISNVTAFFM AALIPIPALR AFSLQAAVVV VFNFAMVLLI FPAILSMDLY RREDRRLDIF CCFTSPCVSR VIQVEPQAYT DTHDNTRYSP PPPYSSHSFA HETQITMQST VQLRTEYDPH THVYYTTAEP RSEISVQPVT VTQDTLSCQS PESTSSTRDL LSQFSDSSLH CLEPPCTKWT LSSFAEKHYA PFLLKPKAKV VVIFLFLGLL GVSLYGTTRV RDGLDLTDIV PRETREYDFI AAQFKYFSFY NMYIVTQKAD YPNIQHLLYD LHRSFSNVKY VMLEENKQLP KMWLHYFRDW LQGLQDAFDS DWETGKIMPN NYKNGSDDGV LAYKLLVQTG SRDKPIDISQ LTKQRLVDAD GIINPSAFYI YLTAWVSNDP VAYAASQANI RPHRPEWVHD KADYMPETRL RIPAAEPIEY AQFPFYLNGL RDTSDFVEAI EKVRTICSNY TSLGLSSYPN GYPFLFWEQY IGLRHWLLLF ISVVLACTFL VCAVFLLNPW TAGIIVMVLA LMTVELFGMM GLIGIKLSAM PVVILIASVG IGVEFTVHVA LAFLTAIGDK NRRAVLALEH MFAPVLDGAV STLLGVLMLA GSEFDFIVRY FFAVLAILTI LGVLNGLVLL PVLLSFFGPY PEVSPANGLN RLPTPSPEPP PSVVRFAMPP GHTHSGSDSS DSEYSSQTTV SGLSEELRHY EAQQGAGGPA HQVIVEATEN PVFAHSTVVH PESRHHPPSN PRQQPHLDSG SLPPGRQGQQ PRRDPPREGL WPPPYRPRRD AFEISTEGHS GPSNRARWGP RGARSHNPRN PASTAMGSSV PGYCQPITTV TASASVTVAV HPPPVPGPGR NPRGGLCPGY PETDHGLFED PHVPFHVRCE RRDSKVEVIE LQDVECEERP RGSSSN* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 4341 / 4341 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1447 / 1447 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 4492 / 4492 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 152 / 152 | ||||||||||||||||
| Last intron/exon boundary | 4493 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 4291 | ||||||||||||||||
| Length of CDS | 4341 | ||||||||||||||||
| Coding sequence (CDS) position | 3238 | ||||||||||||||||
| cDNA position | 3389 | ||||||||||||||||
| gDNA position | 60717 | ||||||||||||||||
| Chromosomal position | 95456341 | ||||||||||||||||
| Speed | 0.05 s | ||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr9:95456341C>T (GRCh38) | |||||||||||||||||||||
| Gene symbol | PTCH1 | |||||||||||||||||||||
| Gene constraints | LOEUF: 0.15, LOF (oe): 0.09, misssense (oe): 0.78, synonymous (oe): 1.00 (gnomAD) | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000430669.6 | |||||||||||||||||||||
| Genbank transcript ID | ||||||||||||||||||||||
| UniProt / AlphaMissense peptide | PTC1_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.3043G>A g.60717G>A | |||||||||||||||||||||
| AA changes |
| |||||||||||||||||||||
| Frameshift | No | |||||||||||||||||||||
| Length of protein | Normal | |||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||||||||||
| Variant DBs |
| |||||||||||||||||||||
| Protein conservation | ||||||||||||||||||||||
| Protein features |
| |||||||||||||||||||||
| Phylogenetic conservation |
| |||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||||||||||
| Distance from splice site | N/A | |||||||||||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||||||||||
| poly(A) signal | N/A | |||||||||||||||||||||
| AA sequence altered | Yes | |||||||||||||||||||||
| Chromosome | 9 | |||||||||||||||||||||
| Strand | -1 | |||||||||||||||||||||
| Original gDNA sequence snippet | TCGGAATCAAGCTCAGTGCCGTGCCCGTGGTCATCCTGATC | |||||||||||||||||||||
| Altered gDNA sequence snippet | TCGGAATCAAGCTCAGTGCCATGCCCGTGGTCATCCTGATC | |||||||||||||||||||||
| Original cDNA sequence snippet | TCGGAATCAAGCTCAGTGCCGTGCCCGTGGTCATCCTGATC | |||||||||||||||||||||
| Altered cDNA sequence snippet | TCGGAATCAAGCTCAGTGCCATGCCCGTGGTCATCCTGATC | |||||||||||||||||||||
| Wildtype AA sequence | MGKATGRKAP LWLRAKFQRL LFKLGCYIQK NCGKFLVVGL LIFGAFAVGL KAANLETNVE ELWVEVGGRV SRELNYTRQK IGEEAMFNPQ LMIQTPKEEG ANVLTTEALL QHLDSALQAS RVHVYMYNRQ WKLEHLCYKS GELITETGYM DQIIEYLYPC LIITPLDCFW EGAKLQSGTA YLLGKPPLRW TNFDPLEFLE ELKKINYQVD SWEEMLNKAE VGHGYMDRPC LNPADPDCPA TAPNKNSTKP LDMALVLNGG CHGLSRKYMH WQEELIVGGT VKNSTGKLVS AHALQTMFQL MTPKQMYEHF KGYEYVSHIN WNEDKAAAIL EAWQRTYVEV VHQSVAQNST QKVLSFTTTT LDDILKSFSD VSVIRVASGY LLMLAYACLT MLRWDCSKSQ GAVGLAGVLL VALSVAAGLG LCSLIGISFN AATTQVLPFL ALGVGVDDVF LLAHAFSETG QNKRIPFEDR TGECLKRTGA SVALTSISNV TAFFMAALIP IPALRAFSLQ AAVVVVFNFA MVLLIFPAIL SMDLYRREDR RLDIFCCFTS PCVSRVIQVE PQAYTDTHDN TRYSPPPPYS SHSFAHETQI TMQSTVQLRT EYDPHTHVYY TTAEPRSEIS VQPVTVTQDT LSCQSPESTS STRDLLSQFS DSSLHCLEPP CTKWTLSSFA EKHYAPFLLK PKAKVVVIFL FLGLLGVSLY GTTRVRDGLD LTDIVPRETR EYDFIAAQFK YFSFYNMYIV TQKADYPNIQ HLLYDLHRSF SNVKYVMLEE NKQLPKMWLH YFRDWLQGLQ DAFDSDWETG KIMPNNYKNG SDDGVLAYKL LVQTGSRDKP IDISQLTKQR LVDADGIINP SAFYIYLTAW VSNDPVAYAA SQANIRPHRP EWVHDKADYM PETRLRIPAA EPIEYAQFPF YLNGLRDTSD FVEAIEKVRT ICSNYTSLGL SSYPNGYPFL FWEQYIGLRH WLLLFISVVL ACTFLVCAVF LLNPWTAGII VMVLALMTVE LFGMMGLIGI KLSAVPVVIL IASVGIGVEF TVHVALAFLT AIGDKNRRAV LALEHMFAPV LDGAVSTLLG VLMLAGSEFD FIVRYFFAVL AILTILGVLN GLVLLPVLLS FFGPYPEVSP ANGLNRLPTP SPEPPPSVVR FAMPPGHTHS GSDSSDSEYS SQTTVSGLSE ELRHYEAQQG AGGPAHQVIV EATENPVFAH STVVHPESRH HPPSNPRQQP HLDSGSLPPG RQGQQPRRDP PREGLWPPPY RPRRDAFEIS TEGHSGPSNR ARWGPRGARS HNPRNPASTA MGSSVPGYCQ PITTVTASAS VTVAVHPPPV PGPGRNPRGG LCPGYPETDH GLFEDPHVPF HVRCERRDSK VEVIELQDVE CEERPRGSSS N* | |||||||||||||||||||||
| Mutated AA sequence | MGKATGRKAP LWLRAKFQRL LFKLGCYIQK NCGKFLVVGL LIFGAFAVGL KAANLETNVE ELWVEVGGRV SRELNYTRQK IGEEAMFNPQ LMIQTPKEEG ANVLTTEALL QHLDSALQAS RVHVYMYNRQ WKLEHLCYKS GELITETGYM DQIIEYLYPC LIITPLDCFW EGAKLQSGTA YLLGKPPLRW TNFDPLEFLE ELKKINYQVD SWEEMLNKAE VGHGYMDRPC LNPADPDCPA TAPNKNSTKP LDMALVLNGG CHGLSRKYMH WQEELIVGGT VKNSTGKLVS AHALQTMFQL MTPKQMYEHF KGYEYVSHIN WNEDKAAAIL EAWQRTYVEV VHQSVAQNST QKVLSFTTTT LDDILKSFSD VSVIRVASGY LLMLAYACLT MLRWDCSKSQ GAVGLAGVLL VALSVAAGLG LCSLIGISFN AATTQVLPFL ALGVGVDDVF LLAHAFSETG QNKRIPFEDR TGECLKRTGA SVALTSISNV TAFFMAALIP IPALRAFSLQ AAVVVVFNFA MVLLIFPAIL SMDLYRREDR RLDIFCCFTS PCVSRVIQVE PQAYTDTHDN TRYSPPPPYS SHSFAHETQI TMQSTVQLRT EYDPHTHVYY TTAEPRSEIS VQPVTVTQDT LSCQSPESTS STRDLLSQFS DSSLHCLEPP CTKWTLSSFA EKHYAPFLLK PKAKVVVIFL FLGLLGVSLY GTTRVRDGLD LTDIVPRETR EYDFIAAQFK YFSFYNMYIV TQKADYPNIQ HLLYDLHRSF SNVKYVMLEE NKQLPKMWLH YFRDWLQGLQ DAFDSDWETG KIMPNNYKNG SDDGVLAYKL LVQTGSRDKP IDISQLTKQR LVDADGIINP SAFYIYLTAW VSNDPVAYAA SQANIRPHRP EWVHDKADYM PETRLRIPAA EPIEYAQFPF YLNGLRDTSD FVEAIEKVRT ICSNYTSLGL SSYPNGYPFL FWEQYIGLRH WLLLFISVVL ACTFLVCAVF LLNPWTAGII VMVLALMTVE LFGMMGLIGI KLSAMPVVIL IASVGIGVEF TVHVALAFLT AIGDKNRRAV LALEHMFAPV LDGAVSTLLG VLMLAGSEFD FIVRYFFAVL AILTILGVLN GLVLLPVLLS FFGPYPEVSP ANGLNRLPTP SPEPPPSVVR FAMPPGHTHS GSDSSDSEYS SQTTVSGLSE ELRHYEAQQG AGGPAHQVIV EATENPVFAH STVVHPESRH HPPSNPRQQP HLDSGSLPPG RQGQQPRRDP PREGLWPPPY RPRRDAFEIS TEGHSGPSNR ARWGPRGARS HNPRNPASTA MGSSVPGYCQ PITTVTASAS VTVAVHPPPV PGPGRNPRGG LCPGYPETDH GLFEDPHVPF HVRCERRDSK VEVIELQDVE CEERPRGSSS N* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 4146 / 4146 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1382 / 1382 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 4732 / 4732 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 587 / 587 | |||||||||||||||||||||
| Last intron/exon boundary | 4192 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 3555 | |||||||||||||||||||||
| Length of CDS | 4146 | |||||||||||||||||||||
| Coding sequence (CDS) position | 3043 | |||||||||||||||||||||
| cDNA position | 3629 | |||||||||||||||||||||
| gDNA position | 60717 | |||||||||||||||||||||
| Chromosomal position | 95456341 | |||||||||||||||||||||
| Speed | 0.11 s | |||||||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr9:95456341C>T (GRCh38) | ||||||||||||||||
| Gene symbol | PTCH1 | ||||||||||||||||
| Gene constraints | LOEUF: 0.14, LOF (oe): 0.09, misssense (oe): 0.78, synonymous (oe): 0.99 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000692981.1 | ||||||||||||||||
| Genbank transcript ID | |||||||||||||||||
| UniProt / AlphaMissense peptide | PTC1_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.2788G>A g.60717G>A | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 9 | ||||||||||||||||
| Strand | -1 | ||||||||||||||||
| Original gDNA sequence snippet | TCGGAATCAAGCTCAGTGCCGTGCCCGTGGTCATCCTGATC | ||||||||||||||||
| Altered gDNA sequence snippet | TCGGAATCAAGCTCAGTGCCATGCCCGTGGTCATCCTGATC | ||||||||||||||||
| Original cDNA sequence snippet | TCGGAATCAAGCTCAGTGCCGTGCCCGTGGTCATCCTGATC | ||||||||||||||||
| Altered cDNA sequence snippet | TCGGAATCAAGCTCAGTGCCATGCCCGTGGTCATCCTGATC | ||||||||||||||||
| Wildtype AA sequence | MFNPQLMIQT PKEEGANVLT TEALLQHLDS ALQASRVHVY MYNRQWKLEH LCYKSGELIT ETGYMDQIIE YLYPCLIITP LDCFWEGAKL QSGTAYLLGK PPLRWTNFDP LEFLEELKKI NYQVDSWEEM LNKAEVGHGY MDRPCLNPAD PDCPATAPNK NSTKPLDMAL VLNGGCHGLS RKYMHWQEEL IVGGTVKNST GKLVSAHALQ TMFQLMTPKQ MYEHFKGYEY VSHINWNEDK AAAILEAWQR TYVEVVHQSV AQNSTQKVLS FTTTTLDDIL KSFSDVSVIR VASGYLLMLA YACLTMLRWD CSKSQGAVGL AGVLLVALSV AAGLGLCSLI GISFNAATTQ VLPFLALGVG VDDVFLLAHA FSETGQNKRI PFEDRTGECL KRTGASVALT SISNVTAFFM AALIPIPALR AFSLQAAVVV VFNFAMVLLI FPAILSMDLY RREDRRLDIF CCFTSPCVSR VIQVEPQAYT DTHDNTRYSP PPPYSSHSFA HETQITMQST VQLRTEYDPH THVYYTTAEP RSEISVQPVT VTQDTLSCQS PESTSSTRDL LSQFSDSSLH CLEPPCTKWT LSSFAEKHYA PFLLKPKAKV VVIFLFLGLL GVSLYGTTRV RDGLDLTDIV PRETREYDFI AAQFKYFSFY NMYIVTQKAD YPNIQHLLYD LHRSFSNVKY VMLEENKQLP KMWLHYFRDW LQGLQDAFDS DWETGKIMPN NYKNGSDDGV LAYKLLVQTG SRDKPIDISQ LTKQRLVDAD GIINPSAFYI YLTAWVSNDP VAYAASQANI RPHRPEWVHD KADYMPETRL RIPAAEPIEY AQFPFYLNGL RDTSDFVEAI EKVRTICSNY TSLGLSSYPN GYPFLFWEQY IGLRHWLLLF ISVVLACTFL VCAVFLLNPW TAGIIVMVLA LMTVELFGMM GLIGIKLSAV PVVILIASVG IGVEFTVHVA LAFLTAIGDK NRRAVLALEH MFAPVLDGAV STLLGVLMLA GSEFDFIVRY FFAVLAILTI LGVLNGLVLL PVLLSFFGPY PEVSPANGLN RLPTPSPEPP PSVVRFAMPP GHTHSGSDSS DSEYSSQTTV SGLSEELRHY EAQQGAGGPA HQVIVEATEN PVFAHSTVVH PESRHHPPSN PRQQPHLDSG SLPPGRQGQQ PRRDPPREGL WPPPYRPRRD AFEISTEGHS GPSNRARWGP RGARSHNPRN PASTAMGSSV PGYCQPITTV TASASVTVAV HPPPVPGPGR NPRGGLCPGY PETDHGLFED PHVPFHVRCE RRDSKVEVIE LQDVECEERP RGSSSN* | ||||||||||||||||
| Mutated AA sequence | MFNPQLMIQT PKEEGANVLT TEALLQHLDS ALQASRVHVY MYNRQWKLEH LCYKSGELIT ETGYMDQIIE YLYPCLIITP LDCFWEGAKL QSGTAYLLGK PPLRWTNFDP LEFLEELKKI NYQVDSWEEM LNKAEVGHGY MDRPCLNPAD PDCPATAPNK NSTKPLDMAL VLNGGCHGLS RKYMHWQEEL IVGGTVKNST GKLVSAHALQ TMFQLMTPKQ MYEHFKGYEY VSHINWNEDK AAAILEAWQR TYVEVVHQSV AQNSTQKVLS FTTTTLDDIL KSFSDVSVIR VASGYLLMLA YACLTMLRWD CSKSQGAVGL AGVLLVALSV AAGLGLCSLI GISFNAATTQ VLPFLALGVG VDDVFLLAHA FSETGQNKRI PFEDRTGECL KRTGASVALT SISNVTAFFM AALIPIPALR AFSLQAAVVV VFNFAMVLLI FPAILSMDLY RREDRRLDIF CCFTSPCVSR VIQVEPQAYT DTHDNTRYSP PPPYSSHSFA HETQITMQST VQLRTEYDPH THVYYTTAEP RSEISVQPVT VTQDTLSCQS PESTSSTRDL LSQFSDSSLH CLEPPCTKWT LSSFAEKHYA PFLLKPKAKV VVIFLFLGLL GVSLYGTTRV RDGLDLTDIV PRETREYDFI AAQFKYFSFY NMYIVTQKAD YPNIQHLLYD LHRSFSNVKY VMLEENKQLP KMWLHYFRDW LQGLQDAFDS DWETGKIMPN NYKNGSDDGV LAYKLLVQTG SRDKPIDISQ LTKQRLVDAD GIINPSAFYI YLTAWVSNDP VAYAASQANI RPHRPEWVHD KADYMPETRL RIPAAEPIEY AQFPFYLNGL RDTSDFVEAI EKVRTICSNY TSLGLSSYPN GYPFLFWEQY IGLRHWLLLF ISVVLACTFL VCAVFLLNPW TAGIIVMVLA LMTVELFGMM GLIGIKLSAM PVVILIASVG IGVEFTVHVA LAFLTAIGDK NRRAVLALEH MFAPVLDGAV STLLGVLMLA GSEFDFIVRY FFAVLAILTI LGVLNGLVLL PVLLSFFGPY PEVSPANGLN RLPTPSPEPP PSVVRFAMPP GHTHSGSDSS DSEYSSQTTV SGLSEELRHY EAQQGAGGPA HQVIVEATEN PVFAHSTVVH PESRHHPPSN PRQQPHLDSG SLPPGRQGQQ PRRDPPREGL WPPPYRPRRD AFEISTEGHS GPSNRARWGP RGARSHNPRN PASTAMGSSV PGYCQPITTV TASASVTVAV HPPPVPGPGR NPRGGLCPGY PETDHGLFED PHVPFHVRCE RRDSKVEVIE LQDVECEERP RGSSSN* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 3891 / 3891 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1297 / 1297 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 4032 / 4032 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 142 / 142 | ||||||||||||||||
| Last intron/exon boundary | 4033 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 3841 | ||||||||||||||||
| Length of CDS | 3891 | ||||||||||||||||
| Coding sequence (CDS) position | 2788 | ||||||||||||||||
| cDNA position | 2929 | ||||||||||||||||
| gDNA position | 60717 | ||||||||||||||||
| Chromosomal position | 95456341 | ||||||||||||||||
| Speed | 0.11 s | ||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr9:95456341C>T (GRCh38) | ||||||||||||||||
| Gene symbol | PTCH1 | ||||||||||||||||
| Gene constraints | LOEUF: 0.14, LOF (oe): 0.09, misssense (oe): 0.78, synonymous (oe): 0.99 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000429896.6 | ||||||||||||||||
| Genbank transcript ID | NM_001083605 (by similarity), NM_001083604 (by similarity), NM_001083606 (by similarity), NM_001083607 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | PTC1_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.2788G>A g.60717G>A | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 9 | ||||||||||||||||
| Strand | -1 | ||||||||||||||||
| Original gDNA sequence snippet | TCGGAATCAAGCTCAGTGCCGTGCCCGTGGTCATCCTGATC | ||||||||||||||||
| Altered gDNA sequence snippet | TCGGAATCAAGCTCAGTGCCATGCCCGTGGTCATCCTGATC | ||||||||||||||||
| Original cDNA sequence snippet | TCGGAATCAAGCTCAGTGCCGTGCCCGTGGTCATCCTGATC | ||||||||||||||||
| Altered cDNA sequence snippet | TCGGAATCAAGCTCAGTGCCATGCCCGTGGTCATCCTGATC | ||||||||||||||||
| Wildtype AA sequence | MFNPQLMIQT PKEEGANVLT TEALLQHLDS ALQASRVHVY MYNRQWKLEH LCYKSGELIT ETGYMDQIIE YLYPCLIITP LDCFWEGAKL QSGTAYLLGK PPLRWTNFDP LEFLEELKKI NYQVDSWEEM LNKAEVGHGY MDRPCLNPAD PDCPATAPNK NSTKPLDMAL VLNGGCHGLS RKYMHWQEEL IVGGTVKNST GKLVSAHALQ TMFQLMTPKQ MYEHFKGYEY VSHINWNEDK AAAILEAWQR TYVEVVHQSV AQNSTQKVLS FTTTTLDDIL KSFSDVSVIR VASGYLLMLA YACLTMLRWD CSKSQGAVGL AGVLLVALSV AAGLGLCSLI GISFNAATTQ VLPFLALGVG VDDVFLLAHA FSETGQNKRI PFEDRTGECL KRTGASVALT SISNVTAFFM AALIPIPALR AFSLQAAVVV VFNFAMVLLI FPAILSMDLY RREDRRLDIF CCFTSPCVSR VIQVEPQAYT DTHDNTRYSP PPPYSSHSFA HETQITMQST VQLRTEYDPH THVYYTTAEP RSEISVQPVT VTQDTLSCQS PESTSSTRDL LSQFSDSSLH CLEPPCTKWT LSSFAEKHYA PFLLKPKAKV VVIFLFLGLL GVSLYGTTRV RDGLDLTDIV PRETREYDFI AAQFKYFSFY NMYIVTQKAD YPNIQHLLYD LHRSFSNVKY VMLEENKQLP KMWLHYFRDW LQGLQDAFDS DWETGKIMPN NYKNGSDDGV LAYKLLVQTG SRDKPIDISQ LTKQRLVDAD GIINPSAFYI YLTAWVSNDP VAYAASQANI RPHRPEWVHD KADYMPETRL RIPAAEPIEY AQFPFYLNGL RDTSDFVEAI EKVRTICSNY TSLGLSSYPN GYPFLFWEQY IGLRHWLLLF ISVVLACTFL VCAVFLLNPW TAGIIVMVLA LMTVELFGMM GLIGIKLSAV PVVILIASVG IGVEFTVHVA LAFLTAIGDK NRRAVLALEH MFAPVLDGAV STLLGVLMLA GSEFDFIVRY FFAVLAILTI LGVLNGLVLL PVLLSFFGPY PEVSPANGLN RLPTPSPEPP PSVVRFAMPP GHTHSGSDSS DSEYSSQTTV SGLSEELRHY EAQQGAGGPA HQVIVEATEN PVFAHSTVVH PESRHHPPSN PRQQPHLDSG SLPPGRQGQQ PRRDPPREGL WPPPYRPRRD AFEISTEGHS GPSNRARWGP RGARSHNPRN PASTAMGSSV PGYCQPITTV TASASVTVAV HPPPVPGPGR NPRGGLCPGY PETDHGLFED PHVPFHVRCE RRDSKVEVIE LQDVECEERP RGSSSN* | ||||||||||||||||
| Mutated AA sequence | MFNPQLMIQT PKEEGANVLT TEALLQHLDS ALQASRVHVY MYNRQWKLEH LCYKSGELIT ETGYMDQIIE YLYPCLIITP LDCFWEGAKL QSGTAYLLGK PPLRWTNFDP LEFLEELKKI NYQVDSWEEM LNKAEVGHGY MDRPCLNPAD PDCPATAPNK NSTKPLDMAL VLNGGCHGLS RKYMHWQEEL IVGGTVKNST GKLVSAHALQ TMFQLMTPKQ MYEHFKGYEY VSHINWNEDK AAAILEAWQR TYVEVVHQSV AQNSTQKVLS FTTTTLDDIL KSFSDVSVIR VASGYLLMLA YACLTMLRWD CSKSQGAVGL AGVLLVALSV AAGLGLCSLI GISFNAATTQ VLPFLALGVG VDDVFLLAHA FSETGQNKRI PFEDRTGECL KRTGASVALT SISNVTAFFM AALIPIPALR AFSLQAAVVV VFNFAMVLLI FPAILSMDLY RREDRRLDIF CCFTSPCVSR VIQVEPQAYT DTHDNTRYSP PPPYSSHSFA HETQITMQST VQLRTEYDPH THVYYTTAEP RSEISVQPVT VTQDTLSCQS PESTSSTRDL LSQFSDSSLH CLEPPCTKWT LSSFAEKHYA PFLLKPKAKV VVIFLFLGLL GVSLYGTTRV RDGLDLTDIV PRETREYDFI AAQFKYFSFY NMYIVTQKAD YPNIQHLLYD LHRSFSNVKY VMLEENKQLP KMWLHYFRDW LQGLQDAFDS DWETGKIMPN NYKNGSDDGV LAYKLLVQTG SRDKPIDISQ LTKQRLVDAD GIINPSAFYI YLTAWVSNDP VAYAASQANI RPHRPEWVHD KADYMPETRL RIPAAEPIEY AQFPFYLNGL RDTSDFVEAI EKVRTICSNY TSLGLSSYPN GYPFLFWEQY IGLRHWLLLF ISVVLACTFL VCAVFLLNPW TAGIIVMVLA LMTVELFGMM GLIGIKLSAM PVVILIASVG IGVEFTVHVA LAFLTAIGDK NRRAVLALEH MFAPVLDGAV STLLGVLMLA GSEFDFIVRY FFAVLAILTI LGVLNGLVLL PVLLSFFGPY PEVSPANGLN RLPTPSPEPP PSVVRFAMPP GHTHSGSDSS DSEYSSQTTV SGLSEELRHY EAQQGAGGPA HQVIVEATEN PVFAHSTVVH PESRHHPPSN PRQQPHLDSG SLPPGRQGQQ PRRDPPREGL WPPPYRPRRD AFEISTEGHS GPSNRARWGP RGARSHNPRN PASTAMGSSV PGYCQPITTV TASASVTVAV HPPPVPGPGR NPRGGLCPGY PETDHGLFED PHVPFHVRCE RRDSKVEVIE LQDVECEERP RGSSSN* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 3891 / 3891 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1297 / 1297 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 4332 / 4332 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 442 / 442 | ||||||||||||||||
| Last intron/exon boundary | 4333 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 3841 | ||||||||||||||||
| Length of CDS | 3891 | ||||||||||||||||
| Coding sequence (CDS) position | 2788 | ||||||||||||||||
| cDNA position | 3229 | ||||||||||||||||
| gDNA position | 60717 | ||||||||||||||||
| Chromosomal position | 95456341 | ||||||||||||||||
| Speed | 0.12 s | ||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr9:95456341C>T (GRCh38) | |||||||||||||||||||||
| Gene symbol | PTCH1 | |||||||||||||||||||||
| Gene constraints | no data | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000711046.1 | |||||||||||||||||||||
| Genbank transcript ID | NM_001083602 (by similarity) | |||||||||||||||||||||
| UniProt / AlphaMissense peptide | PTC1_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.3043G>A g.60717G>A | |||||||||||||||||||||
| AA changes |
| |||||||||||||||||||||
| Frameshift | No | |||||||||||||||||||||
| Length of protein | Normal | |||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||||||||||
| Variant DBs |
| |||||||||||||||||||||
| Protein conservation | ||||||||||||||||||||||
| Protein features |
| |||||||||||||||||||||
| Phylogenetic conservation |
| |||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||||||||||
| Distance from splice site | N/A | |||||||||||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||||||||||
| poly(A) signal | N/A | |||||||||||||||||||||
| AA sequence altered | Yes | |||||||||||||||||||||
| Chromosome | 9 | |||||||||||||||||||||
| Strand | -1 | |||||||||||||||||||||
| Original gDNA sequence snippet | TCGGAATCAAGCTCAGTGCCGTGCCCGTGGTCATCCTGATC | |||||||||||||||||||||
| Altered gDNA sequence snippet | TCGGAATCAAGCTCAGTGCCATGCCCGTGGTCATCCTGATC | |||||||||||||||||||||
| Original cDNA sequence snippet | TCGGAATCAAGCTCAGTGCCGTGCCCGTGGTCATCCTGATC | |||||||||||||||||||||
| Altered cDNA sequence snippet | TCGGAATCAAGCTCAGTGCCATGCCCGTGGTCATCCTGATC | |||||||||||||||||||||
| Wildtype AA sequence | MGKATGRKAP LWLRAKFQRL LFKLGCYIQK NCGKFLVVGL LIFGAFAVGL KAANLETNVE ELWVEVGGRV SRELNYTRQK IGEEAMFNPQ LMIQTPKEEG ANVLTTEALL QHLDSALQAS RVHVYMYNRQ WKLEHLCYKS GELITETGYM DQIIEYLYPC LIITPLDCFW EGAKLQSGTA YLLGKPPLRW TNFDPLEFLE ELKKINYQVD SWEEMLNKAE VGHGYMDRPC LNPADPDCPA TAPNKNSTKP LDMALVLNGG CHGLSRKYMH WQEELIVGGT VKNSTGKLVS AHALQTMFQL MTPKQMYEHF KGYEYVSHIN WNEDKAAAIL EAWQRTYVEV VHQSVAQNST QKVLSFTTTT LDDILKSFSD VSVIRVASGY LLMLAYACLT MLRWDCSKSQ GAVGLAGVLL VALSVAAGLG LCSLIGISFN AATTQVLPFL ALGVGVDDVF LLAHAFSETG QNKRIPFEDR TGECLKRTGA SVALTSISNV TAFFMAALIP IPALRAFSLQ AAVVVVFNFA MVLLIFPAIL SMDLYRREDR RLDIFCCFTS PCVSRVIQVE PQAYTDTHDN TRYSPPPPYS SHSFAHETQI TMQSTVQLRT EYDPHTHVYY TTAEPRSEIS VQPVTVTQDT LSCQSPESTS STRDLLSQFS DSSLHCLEPP CTKWTLSSFA EKHYAPFLLK PKAKVVVIFL FLGLLGVSLY GTTRVRDGLD LTDIVPRETR EYDFIAAQFK YFSFYNMYIV TQKADYPNIQ HLLYDLHRSF SNVKYVMLEE NKQLPKMWLH YFRDWLQGLQ DAFDSDWETG KIMPNNYKNG SDDGVLAYKL LVQTGSRDKP IDISQLTKQR LVDADGIINP SAFYIYLTAW VSNDPVAYAA SQANIRPHRP EWVHDKADYM PETRLRIPAA EPIEYAQFPF YLNGLRDTSD FVEAIEKVRT ICSNYTSLGL SSYPNGYPFL FWEQYIGLRH WLLLFISVVL ACTFLVCAVF LLNPWTAGII VMVLALMTVE LFGMMGLIGI KLSAVPVVIL IASVGIGVEF TVHVALAFLT AIGDKNRRAV LALEHMFAPV LDGAVSTLLG VLMLAGSEFD FIVRYFFAVL AILTILGVLN GLVLLPVLLS FFGPYPEVSP ANGLNRLPTP SPEPPPSVVR FAMPPGHTHS GSDSSDSEYS SQTTVSGLSE ELRHYEAQQG AGGPAHQVIV EATENPVFAH STVVHPESRH HPPSNPRQQP HLDSGSLPPG RQGQQPRRDP PREGLWPPPY RPRRDAFEIS TEGHSGPSNR ARWGPRGARS HNPRNPASTA MGSSVPGYCQ PITTVTASAS VTVAVHPPPV PGPGRNPRGG LCPGYPETDH GLFEDPHVPF HVRCERRDSK VEVIELQDVE CEERPRGSSS N* | |||||||||||||||||||||
| Mutated AA sequence | MGKATGRKAP LWLRAKFQRL LFKLGCYIQK NCGKFLVVGL LIFGAFAVGL KAANLETNVE ELWVEVGGRV SRELNYTRQK IGEEAMFNPQ LMIQTPKEEG ANVLTTEALL QHLDSALQAS RVHVYMYNRQ WKLEHLCYKS GELITETGYM DQIIEYLYPC LIITPLDCFW EGAKLQSGTA YLLGKPPLRW TNFDPLEFLE ELKKINYQVD SWEEMLNKAE VGHGYMDRPC LNPADPDCPA TAPNKNSTKP LDMALVLNGG CHGLSRKYMH WQEELIVGGT VKNSTGKLVS AHALQTMFQL MTPKQMYEHF KGYEYVSHIN WNEDKAAAIL EAWQRTYVEV VHQSVAQNST QKVLSFTTTT LDDILKSFSD VSVIRVASGY LLMLAYACLT MLRWDCSKSQ GAVGLAGVLL VALSVAAGLG LCSLIGISFN AATTQVLPFL ALGVGVDDVF LLAHAFSETG QNKRIPFEDR TGECLKRTGA SVALTSISNV TAFFMAALIP IPALRAFSLQ AAVVVVFNFA MVLLIFPAIL SMDLYRREDR RLDIFCCFTS PCVSRVIQVE PQAYTDTHDN TRYSPPPPYS SHSFAHETQI TMQSTVQLRT EYDPHTHVYY TTAEPRSEIS VQPVTVTQDT LSCQSPESTS STRDLLSQFS DSSLHCLEPP CTKWTLSSFA EKHYAPFLLK PKAKVVVIFL FLGLLGVSLY GTTRVRDGLD LTDIVPRETR EYDFIAAQFK YFSFYNMYIV TQKADYPNIQ HLLYDLHRSF SNVKYVMLEE NKQLPKMWLH YFRDWLQGLQ DAFDSDWETG KIMPNNYKNG SDDGVLAYKL LVQTGSRDKP IDISQLTKQR LVDADGIINP SAFYIYLTAW VSNDPVAYAA SQANIRPHRP EWVHDKADYM PETRLRIPAA EPIEYAQFPF YLNGLRDTSD FVEAIEKVRT ICSNYTSLGL SSYPNGYPFL FWEQYIGLRH WLLLFISVVL ACTFLVCAVF LLNPWTAGII VMVLALMTVE LFGMMGLIGI KLSAMPVVIL IASVGIGVEF TVHVALAFLT AIGDKNRRAV LALEHMFAPV LDGAVSTLLG VLMLAGSEFD FIVRYFFAVL AILTILGVLN GLVLLPVLLS FFGPYPEVSP ANGLNRLPTP SPEPPPSVVR FAMPPGHTHS GSDSSDSEYS SQTTVSGLSE ELRHYEAQQG AGGPAHQVIV EATENPVFAH STVVHPESRH HPPSNPRQQP HLDSGSLPPG RQGQQPRRDP PREGLWPPPY RPRRDAFEIS TEGHSGPSNR ARWGPRGARS HNPRNPASTA MGSSVPGYCQ PITTVTASAS VTVAVHPPPV PGPGRNPRGG LCPGYPETDH GLFEDPHVPF HVRCERRDSK VEVIELQDVE CEERPRGSSS N* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 4146 / 4146 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1382 / 1382 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 4646 / 4646 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 501 / 501 | |||||||||||||||||||||
| Last intron/exon boundary | 4647 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 4096 | |||||||||||||||||||||
| Length of CDS | 4146 | |||||||||||||||||||||
| Coding sequence (CDS) position | 3043 | |||||||||||||||||||||
| cDNA position | 3543 | |||||||||||||||||||||
| gDNA position | 60717 | |||||||||||||||||||||
| Chromosomal position | 95456341 | |||||||||||||||||||||
| Speed | 0.04 s | |||||||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project