| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000361673(MANE Select) | ALPK2 | Benign | 1|199 | without_ | No | Single base exchange | N/A |
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr18:58572609A>C (GRCh38) | |||||||||||||
| Gene symbol | ALPK2 | |||||||||||||
| Gene constraints | LOEUF: 0.86, LOF (oe): 0.74, misssense (oe): 0.86, synonymous (oe): 0.94 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000361673.4 | |||||||||||||
| Genbank transcript ID | NM_052947 (exact from MANE) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.1962+6205T>G g.56483T>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 18 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | ACAGTATACAAGTTTTTGAGTTTTTTTTTCAGCAGAATTCC | |||||||||||||
| Altered gDNA sequence snippet | ACAGTATACAAGTTTTTGAGGTTTTTTTTCAGCAGAATTCC | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MKDSEGPQRP PLCFLSTLLS QKVPEKSDAV LRCIISGQPK PEVTWYKNGQ AIDGSGIISN YEFFENQYIH VLHLSCCTKN DAAVYQISAK NSFGMICCSA SVEVECSSEN PQLSPNLEDD RDRGWKHETG THEEERANQI DEKEHPYKEE ESISPGTPRS ADSSPSKSNH SLSLQSLGNL DISVSSSENP LGVKGTRHTG EAYDPSNTEE IANGLLFLNS SHIYEKQDRC CHKTVHSMAS KFTDGDLNND GPHDEGLRSS QQNPKVQKYI SFSLPLSEAT AHIYPGDSAV ANKQPSPQLS SEDSDSDYEL CPEITLTYTE EFSDDDLEYL ECSDVMTDYS NAVWQRNLLG TEHVFLLESD DEEMEFGEHC LGGCEHFLSG MGCGSRVSGD AGPMVATAGF CGHHSQPQEV GVRSSRVSKH GPSSPQTGMT LILGPHQDGT SSVTEQGRYK LPTAPEAAEN DYPGIQGETR DSHQAREEFA SDNLLNMDES VRETEMKLLS GESENSGMSQ CWETAADKRV GGKDLWSKRG SRKSARVRQP GMKGNPKKPN ANLRESTTEG TLHLCSAKES AEPPLTQSDK RETSHTTAAA TGRSSHADAR ECAISTQAEQ EAKTLQTSTD SVSKEGNTNC KGEGMQVNTL FETSQVPDWS DPPQVQVQET VRETISCSQM PAFSEPAGEE SPFTGTTTIS FSNLGGVHKE NASLAQHSEV KPCTCGPQHE EKQDRDGNIP DNFREDLKYE QSISEANDET MSPGVFSRHL PKDARADFRE PVAVSVASPE PTDTALTLEN VCDEPRDREA VCAMECFEAG DQGTCFDTID SLVGRPVDKY SPQEICSVDT ELAEGQNKVS DLCSSNDKTL EVFFQTQVSE TSVSTCKSSK DGNSVMSPLF TSTFTLNISH TASEGATGEN LAKVENSTYP LASTVHAGQE QPSPSNSGGL DETQLLSSEN NPLVQFKEGG DKSPSPSAAD TTATPASYSS IVSFPWEKPT TLTANNECFQ ATRETEDTST VTIATEVHPA KYLAVSIPED KHAGGTEERF PRASHEKVSQ FPSQVQLDHI LSGATIKSTK ELLCRAPSVP GVPHHVLQLP EGEGFCSNSP LQVDNLSGDK SQTVDRADFR SYEENFQERG SETKQGVQQQ SLSQQGSLSA PDFQQSLPTT SAAQEERNLV PTAHSPASSR EGAGQRSGWG TRVSVVAETA GEEDSQALSN VPSLSDILLE ESKEYRPGNW EAGNKLKIIT LEASASEIWP PRQLTNSESK ASDGGLIIPD KVWAVPDSLK ADAVVPELAP SEIAALAHSP EDAESALADS RESHKGEEPT ISVHWRSLSS RGFSQPRLLE SSVDPVDEKE LSVTDSLSAA SETGGKENVN NVSQDQEEKQ LKMDHTAFFK KFLTCPKILE SSVDPIDEIS VIEYTRAGKP EPSETTPQGA REGGQSNDGN MGHEAEIQPA ILQVPCLQGT ILSENRISRS QEGSMKQEAE QIQPEEAKTA IWQVLQPSEG GERIPSGCSI GQIQESSDGS LGEAEQSKKD KAELISPTSP LSSCLPIMTH ASLGVDTHNS TGQIHDVPEN DIVEPRKRQY VFPVSQKRGT IENERGKPLP SSPDLTRFPC TSSPEGNVTD FLISHKMEEP KIEVLQIGET KPPSSSSSSA KTLAFISGER ELEKAPKLLQ DPCQKGTLGC AKKSREREKS LEARAGKSPG TLTAVTGSEE VKRKPEAPGS GHLAEGVKKK ILSRVAALRL KLEEKENIRK NSAFLKKMPK LETSLSHTEE KQDPKKPSCK REGRAPVLLK KIQAEMFPEH SGNVKLSCQF AEIHEDSTIC WTKDSKSIAQ VQRSAGDNST VSFAIVQASP KDQGLYYCCI KNSYGKVTAE FNLTAEVLKQ LSSRQDTKGC EEIEFSQLIF KEDFLHDSYF GGRLRGQIAT EELHFGEGVH RKAFRSTVMH GLMPVFKPGH ACVLKVHNAI AYGTRNNDEL IQRNYKLAAQ ECYVQNTARY YAKIYAAEAQ PLEGFGEVPE IIPIFLIHRP ENNIPYATVE EELIGEFVKY SIRDGKEINF LRRESEAGQK CCTFQHWVYQ KTSGCLLVTD MQGVGMKLTD VGIATLAKGY KGFKGNCSMT FIDQFKALHQ CNKYCKMLGL KSLQNNNQKQ KQPSIGKSKV QTNSMTIKKA GPETPGEKKT * | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 349 / 349 | |||||||||||||
| Last intron/exon boundary | 6644 | |||||||||||||
| Theoretical NMD boundary in CDS | 6245 | |||||||||||||
| Length of CDS | 6513 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 56483 | |||||||||||||
| Chromosomal position | 58572609 | |||||||||||||
| 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