| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000374403(MANE Select) | KIF4A | Benign | 45|55 | simple_ | No | Single base exchange | Normal |
|
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:70302033C>G (GRCh38) | ||||||||||||||||
| Gene symbol | KIF4A | ||||||||||||||||
| Gene constraints | no data | ||||||||||||||||
| Ensembl transcript ID | ENST00000374403.4 | ||||||||||||||||
| Genbank transcript ID | NM_012310 (exact from MANE) | ||||||||||||||||
| UniProt / AlphaMissense peptide | KIF4A_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.650C>G g.11930C>G | ||||||||||||||||
| 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 | 23 | ||||||||||||||||
| Strand | 1 | ||||||||||||||||
| Original gDNA sequence snippet | CCGATCTCATGCCATCTTTACAATCTCCTTAGAGCAAAGAA | ||||||||||||||||
| Altered gDNA sequence snippet | CCGATCTCATGCCATCTTTAGAATCTCCTTAGAGCAAAGAA | ||||||||||||||||
| Original cDNA sequence snippet | CCGATCTCATGCCATCTTTACAATCTCCTTAGAGCAAAGAA | ||||||||||||||||
| Altered cDNA sequence snippet | CCGATCTCATGCCATCTTTAGAATCTCCTTAGAGCAAAGAA | ||||||||||||||||
| Wildtype AA sequence | MKEEVKGIPV RVALRCRPLV PKEISEGCQM CLSFVPGEPQ VVVGTDKSFT YDFVFDPSTE QEEVFNTAVA PLIKGVFKGY NATVLAYGQT GSGKTYSMGG AYTAEQENEP TVGVIPRVIQ LLFKEIDKKS DFEFTLKVSY LEIYNEEILD LLCPSREKAQ INIREDPKEG IKIVGLTEKT VLVALDTVSC LEQGNNSRTV ASTAMNSQSS RSHAIFTISL EQRKKSDKNS SFRSKLHLVD LAGSERQKKT KAEGDRLKEG ININRGLLCL GNVISALGDD KKGGFVPYRD SKLTRLLQDS LGGNSHTLMI ACVSPADSNL EETLNTLRYA DRARKIKNKP IVNIDPQTAE LNHLKQQVQQ LQVLLLQAHG GTLPGSITVE PSENLQSLME KNQSLVEENE KLSRGLSEAA GQTAQMLERI ILTEQANEKM NAKLEELRQH AACKLDLQKL VETLEDQELK ENVEIICNLQ QLITQLSDET VACMAAAIDT AVEQEAQVET SPETSRSSDA FTTQHALRQA QMSKELVELN KALALKEALA RKMTQNDSQL QPIQYQYQDN IKELELEVIN LQKEKEELVL ELQTAKKDAN QAKLSERRRK RLQELEGQIA DLKKKLNEQS KLLKLKESTE RTVSKLNQEI RMMKNQRVQL MRQMKEDAEK FRQWKQKKDK EVIQLKERDR KRQYELLKLE RNFQKQSNVL RRKTEEAAAA NKRLKDALQK QREVADKRKE TQSRGMEGTA ARVKNWLGNE IEVMVSTEEA KRHLNDLLED RKILAQDVAQ LKEKKESGEN PPPKLRRRTF SLTEVRGQVS ESEDSITKQI ESLETEMEFR SAQIADLQQK LLDAESEDRP KQRWENIATI LEAKCALKYL IGELVSSKIQ VSKLESSLKQ SKTSCADMQK MLFEERNHFA EIETELQAEL VRMEQQHQEK VLYLLSQLQQ SQMAEKQLEE SVSEKEQQLL STLKCQDEEL EKMREVCEQN QQLLRENEII KQKLTLLQVA SRQKHLPKDT LLSPDSSFEY VPPKPKPSRV KEKFLEQSMD IEDLKYCSEH SVNEHEDGDG DDDEGDDEEW KPTKLVKVSR KNIQGCSCKG WCGNKQCGCR KQKSDCGVDC CCDPTKCRNR QQGKDSLGTV ERTQDSEGSF KLEDPTEVTP GLSFFNPVCA TPNSKILKEM CDVEQVLSKK TPPAPSPFDL PELKHVATEY QENKAPGKKK KRALASNTSF FSGCSPIEEE AH* | ||||||||||||||||
| Mutated AA sequence | MKEEVKGIPV RVALRCRPLV PKEISEGCQM CLSFVPGEPQ VVVGTDKSFT YDFVFDPSTE QEEVFNTAVA PLIKGVFKGY NATVLAYGQT GSGKTYSMGG AYTAEQENEP TVGVIPRVIQ LLFKEIDKKS DFEFTLKVSY LEIYNEEILD LLCPSREKAQ INIREDPKEG IKIVGLTEKT VLVALDTVSC LEQGNNSRTV ASTAMNSQSS RSHAIFRISL EQRKKSDKNS SFRSKLHLVD LAGSERQKKT KAEGDRLKEG ININRGLLCL GNVISALGDD KKGGFVPYRD SKLTRLLQDS LGGNSHTLMI ACVSPADSNL EETLNTLRYA DRARKIKNKP IVNIDPQTAE LNHLKQQVQQ LQVLLLQAHG GTLPGSITVE PSENLQSLME KNQSLVEENE KLSRGLSEAA GQTAQMLERI ILTEQANEKM NAKLEELRQH AACKLDLQKL VETLEDQELK ENVEIICNLQ QLITQLSDET VACMAAAIDT AVEQEAQVET SPETSRSSDA FTTQHALRQA QMSKELVELN KALALKEALA RKMTQNDSQL QPIQYQYQDN IKELELEVIN LQKEKEELVL ELQTAKKDAN QAKLSERRRK RLQELEGQIA DLKKKLNEQS KLLKLKESTE RTVSKLNQEI RMMKNQRVQL MRQMKEDAEK FRQWKQKKDK EVIQLKERDR KRQYELLKLE RNFQKQSNVL RRKTEEAAAA NKRLKDALQK QREVADKRKE TQSRGMEGTA ARVKNWLGNE IEVMVSTEEA KRHLNDLLED RKILAQDVAQ LKEKKESGEN PPPKLRRRTF SLTEVRGQVS ESEDSITKQI ESLETEMEFR SAQIADLQQK LLDAESEDRP KQRWENIATI LEAKCALKYL IGELVSSKIQ VSKLESSLKQ SKTSCADMQK MLFEERNHFA EIETELQAEL VRMEQQHQEK VLYLLSQLQQ SQMAEKQLEE SVSEKEQQLL STLKCQDEEL EKMREVCEQN QQLLRENEII KQKLTLLQVA SRQKHLPKDT LLSPDSSFEY VPPKPKPSRV KEKFLEQSMD IEDLKYCSEH SVNEHEDGDG DDDEGDDEEW KPTKLVKVSR KNIQGCSCKG WCGNKQCGCR KQKSDCGVDC CCDPTKCRNR QQGKDSLGTV ERTQDSEGSF KLEDPTEVTP GLSFFNPVCA TPNSKILKEM CDVEQVLSKK TPPAPSPFDL PELKHVATEY QENKAPGKKK KRALASNTSF FSGCSPIEEE AH* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 3699 / 3699 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1233 / 1233 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 3767 / 3767 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 69 / 69 | ||||||||||||||||
| Last intron/exon boundary | 3563 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 3444 | ||||||||||||||||
| Length of CDS | 3699 | ||||||||||||||||
| Coding sequence (CDS) position | 650 | ||||||||||||||||
| cDNA position | 718 | ||||||||||||||||
| gDNA position | 11930 | ||||||||||||||||
| Chromosomal position | 70302033 | ||||||||||||||||
| Speed | 0.07 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