Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.00184978829018962 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:21991626C>GN/A show variant in all transcripts   IGV
HGNC symbol SALL2
Ensembl transcript ID ENST00000450879
Genbank transcript ID N/A
UniProt peptide Q9Y467
alteration type single base exchange
alteration region CDS
DNA changes c.1825G>C
cDNA.1925G>C
g.13725G>C
AA changes G609R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 609
frameshift no
known variant Reference ID: rs1263810
databasehomozygous (G/G)heterozygousallele carriers
1000G1908431033
ExAC60802060726687
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.7170.941
3.360.964
(flanking)-0.3660.06
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased13723wt: 0.44 / mu: 0.73wt: CGGGGCAGGGAGTTT
mu: CGGGGCACGGAGTTT		 GGGC|aggg
Donor increased13720wt: 0.73 / mu: 0.97wt: CTCCGGGGCAGGGAG
mu: CTCCGGGGCACGGAG		 CCGG|ggca
distance from splice site 660
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      609NGSEQSTVSGAGSFPQQQSQQPSP
mutated  not conserved    609EQSTVSGARSFPQQQSQQPS
Ptroglodytes  all identical  ENSPTRG00000006128  746SGAGSFPQQQSQQPS
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000000342  745NGSEQSTVSGVGTF
Mmusculus  all identical  ENSMUSG00000049532  814SGPGSFPQPQSQQPS
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000075116  1114FPNEQKTEDKGRKTPKNGQKIPP
Dmelanogaster  not conserved  FBgn0000287  702NSNKSLGTSDTLDFSTTISDHSG
Celegans  not conserved  F15C11.1  466NATDMSTQFNLAN
Xtropicalis  all identical  ENSXETG00000017176  686----ELTEVGEGKTEVQPAKHNA
protein features
start (aa)end (aa)featuredetails 
609609MOD_RESPhosphoserine.lost
616616MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
623623MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
631653ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
659681ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
691713ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
764775COMPBIASPoly-Glu.might get lost (downstream of altered splice site)
797797MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
802802MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
806806MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
816821COMPBIASPoly-Ala.might get lost (downstream of altered splice site)
838843COMPBIASPoly-Pro.might get lost (downstream of altered splice site)
911911CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
911933ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
940964ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2721 / 2721
position (AA) of stopcodon in wt / mu AA sequence 907 / 907
position of stopcodon in wt / mu cDNA 2821 / 2821
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 101 / 101
chromosome 14
strand -1
last intron/exon boundary 2585
theoretical NMD boundary in CDS 2434
length of CDS 2721
coding sequence (CDS) position 1825
cDNA position
(for ins/del: last normal base / first normal base)		 1925
gDNA position
(for ins/del: last normal base / first normal base)		 13725
chromosomal position
(for ins/del: last normal base / first normal base)		 21991626
original gDNA sequence snippet AATCTACAGTCTCCGGGGCAGGGAGTTTCCCCCAGCAGCAG
altered gDNA sequence snippet AATCTACAGTCTCCGGGGCACGGAGTTTCCCCCAGCAGCAG
original cDNA sequence snippet AATCTACAGTCTCCGGGGCAGGGAGTTTCCCCCAGCAGCAG
altered cDNA sequence snippet AATCTACAGTCTCCGGGGCACGGAGTTTCCCCCAGCAGCAG
wildtype AA sequence MAHESERSSR LGVPCGEPAE LGGDASEEDH PQVCAKCCAQ FTDPTEFLAH QNACSTDPPV
MVIIGGQENP NNSSASSEPR PEGHNNPQVM DTEHSNPPDS GSSVPTDPTW GPERRGEESP
GHFLVAATGA ETPKQAFFHL YHPLGSQHPF SAGGVGRSHK PTPAPSPALP GSTDQLIASP
HLAFPSTTGL LAAQCLGAAR GLEATASPGL LKPKNGSGEL SYGEVMGPLE KPGGRHKCRF
CAKVFGSDSA LQIHLRSHTG ERPYKCNVCG NRFTTRGNLK VHFHRHREKY PHVQMNPHPV
PEHLDYVITS SGLPYGMSVP PEKAEEEAAT PGGGVERKPL VASTTALSAT ESLTLLSTSA
GTATAPGLPA FNKFVLMKAV EPKNKADENT PPGSEGSAIS GVAESSTATR MQLSKLVTSL
PSWALLTNHF KSTGSFPFPY VLEPLGASPS ETSKLQQLVE KIDRQGAVAV TSAASGAPTT
SAPAPSSSAS SGPNQCVICL RVLSCPRALR LHYGQHGGER PFKCKVCGRA FSTRGNLRAH
FVGHKASPAA RAQNSCPICQ KKFTNAVTLQ QHVRMHLGGQ IPNGGTALPE GGGAAQENGS
EQSTVSGAGS FPQQQSQQPS PEEELSEEEE EEDEEEEEDV TDEDSLAGRG SESGGEKAIS
VRGDSEEASG AEEEVGTVAA AATAGKEMDS NEKTTQQSSL PPPPPPDSLD QPQPMEQGSS
GVLGGKEEGG KPERSSSPAS ALTPEGEATS VTLVEELSLQ EAMRKEPGES SSRKACEVCG
QAFPSQAALE EHQKTHPKEG PLFTCVFCRQ GFLERATLKK HMLLAHHQNQ YVAFLSNGLP
MKPWNSSSTS TTTPSLAPPV LFGLGTVAGK VPPTMGSREA KEKTAPLLFQ PPAPKAVPEK
PIIDKK*
mutated AA sequence MAHESERSSR LGVPCGEPAE LGGDASEEDH PQVCAKCCAQ FTDPTEFLAH QNACSTDPPV
MVIIGGQENP NNSSASSEPR PEGHNNPQVM DTEHSNPPDS GSSVPTDPTW GPERRGEESP
GHFLVAATGA ETPKQAFFHL YHPLGSQHPF SAGGVGRSHK PTPAPSPALP GSTDQLIASP
HLAFPSTTGL LAAQCLGAAR GLEATASPGL LKPKNGSGEL SYGEVMGPLE KPGGRHKCRF
CAKVFGSDSA LQIHLRSHTG ERPYKCNVCG NRFTTRGNLK VHFHRHREKY PHVQMNPHPV
PEHLDYVITS SGLPYGMSVP PEKAEEEAAT PGGGVERKPL VASTTALSAT ESLTLLSTSA
GTATAPGLPA FNKFVLMKAV EPKNKADENT PPGSEGSAIS GVAESSTATR MQLSKLVTSL
PSWALLTNHF KSTGSFPFPY VLEPLGASPS ETSKLQQLVE KIDRQGAVAV TSAASGAPTT
SAPAPSSSAS SGPNQCVICL RVLSCPRALR LHYGQHGGER PFKCKVCGRA FSTRGNLRAH
FVGHKASPAA RAQNSCPICQ KKFTNAVTLQ QHVRMHLGGQ IPNGGTALPE GGGAAQENGS
EQSTVSGARS FPQQQSQQPS PEEELSEEEE EEDEEEEEDV TDEDSLAGRG SESGGEKAIS
VRGDSEEASG AEEEVGTVAA AATAGKEMDS NEKTTQQSSL PPPPPPDSLD QPQPMEQGSS
GVLGGKEEGG KPERSSSPAS ALTPEGEATS VTLVEELSLQ EAMRKEPGES SSRKACEVCG
QAFPSQAALE EHQKTHPKEG PLFTCVFCRQ GFLERATLKK HMLLAHHQNQ YVAFLSNGLP
MKPWNSSSTS TTTPSLAPPV LFGLGTVAGK VPPTMGSREA KEKTAPLLFQ PPAPKAVPEK
PIIDKK*
speed 1.16 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project