Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.00516085153469639 (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 ENST00000327430
Genbank transcript ID NM_005407
UniProt peptide Q9Y467
alteration type single base exchange
alteration region CDS
DNA changes c.2236G>C
cDNA.2531G>C
g.13725G>C
AA changes G746R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 746
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 2163
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      746NGSEQSTVSGAGSFPQQQSQQPSP
mutated  not conserved    746NGSEQSTVSGARSFPQQQSQQPS
Ptroglodytes  all identical  ENSPTRG00000006128  746NGSEQSTVSGAGSFPQQQSQQPS
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000000342  745NGSEQSTVSGVGTF
Mmusculus  all identical  ENSMUSG00000049532  814EQSTASGPGSFPQPQSQQPS
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  692----ELTEVGEGKTE
protein features
start (aa)end (aa)featuredetails 
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 3024 / 3024
position (AA) of stopcodon in wt / mu AA sequence 1008 / 1008
position of stopcodon in wt / mu cDNA 3319 / 3319
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 296 / 296
chromosome 14
strand -1
last intron/exon boundary 369
theoretical NMD boundary in CDS 23
length of CDS 3024
coding sequence (CDS) position 2236
cDNA position
(for ins/del: last normal base / first normal base)		 2531
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 MSRRKQRKPQ QLISDCEGPS ASENGDASEE DHPQVCAKCC AQFTDPTEFL AHQNACSTDP
PVMVIIGGQE NPNNSSASSE PRPEGHNNPQ VMDTEHSNPP DSGSSVPTDP TWGPERRGEE
SPGHFLVAAT GTAAGGGGGL ILASPKLGAT PLPPESTPAP PPPPPPPPPP GVGSGHLNIP
LILEELRVLQ QRQIHQMQMT EQICRQVLLL GSLGQTVGAP ASPSELPGTG TASSTKPLLP
LFSPIKPVQT SKTLASSSSS SSSSSGAETP KQAFFHLYHP LGSQHPFSAG GVGRSHKPTP
APSPALPGST DQLIASPHLA FPSTTGLLAA QCLGAARGLE ATASPGLLKP KNGSGELSYG
EVMGPLEKPG GRHKCRFCAK VFGSDSALQI HLRSHTGERP YKCNVCGNRF TTRGNLKVHF
HRHREKYPHV QMNPHPVPEH LDYVITSSGL PYGMSVPPEK AEEEAATPGG GVERKPLVAS
TTALSATESL TLLSTSAGTA TAPGLPAFNK FVLMKAVEPK NKADENTPPG SEGSAISGVA
ESSTATRMQL SKLVTSLPSW ALLTNHFKST GSFPFPYVLE PLGASPSETS KLQQLVEKID
RQGAVAVTSA ASGAPTTSAP APSSSASSGP NQCVICLRVL SCPRALRLHY GQHGGERPFK
CKVCGRAFST RGNLRAHFVG HKASPAARAQ NSCPICQKKF TNAVTLQQHV RMHLGGQIPN
GGTALPEGGG AAQENGSEQS TVSGAGSFPQ QQSQQPSPEE ELSEEEEEED EEEEEDVTDE
DSLAGRGSES GGEKAISVRG DSEEASGAEE EVGTVAAAAT AGKEMDSNEK TTQQSSLPPP
PPPDSLDQPQ PMEQGSSGVL GGKEEGGKPE RSSSPASALT PEGEATSVTL VEELSLQEAM
RKEPGESSSR KACEVCGQAF PSQAALEEHQ KTHPKEGPLF TCVFCRQGFL ERATLKKHML
LAHHQVQPFA PHGPQNIAAL SLVPGCSPSI TSTGLSPFPR KDDPTIP*
mutated AA sequence MSRRKQRKPQ QLISDCEGPS ASENGDASEE DHPQVCAKCC AQFTDPTEFL AHQNACSTDP
PVMVIIGGQE NPNNSSASSE PRPEGHNNPQ VMDTEHSNPP DSGSSVPTDP TWGPERRGEE
SPGHFLVAAT GTAAGGGGGL ILASPKLGAT PLPPESTPAP PPPPPPPPPP GVGSGHLNIP
LILEELRVLQ QRQIHQMQMT EQICRQVLLL GSLGQTVGAP ASPSELPGTG TASSTKPLLP
LFSPIKPVQT SKTLASSSSS SSSSSGAETP KQAFFHLYHP LGSQHPFSAG GVGRSHKPTP
APSPALPGST DQLIASPHLA FPSTTGLLAA QCLGAARGLE ATASPGLLKP KNGSGELSYG
EVMGPLEKPG GRHKCRFCAK VFGSDSALQI HLRSHTGERP YKCNVCGNRF TTRGNLKVHF
HRHREKYPHV QMNPHPVPEH LDYVITSSGL PYGMSVPPEK AEEEAATPGG GVERKPLVAS
TTALSATESL TLLSTSAGTA TAPGLPAFNK FVLMKAVEPK NKADENTPPG SEGSAISGVA
ESSTATRMQL SKLVTSLPSW ALLTNHFKST GSFPFPYVLE PLGASPSETS KLQQLVEKID
RQGAVAVTSA ASGAPTTSAP APSSSASSGP NQCVICLRVL SCPRALRLHY GQHGGERPFK
CKVCGRAFST RGNLRAHFVG HKASPAARAQ NSCPICQKKF TNAVTLQQHV RMHLGGQIPN
GGTALPEGGG AAQENGSEQS TVSGARSFPQ QQSQQPSPEE ELSEEEEEED EEEEEDVTDE
DSLAGRGSES GGEKAISVRG DSEEASGAEE EVGTVAAAAT AGKEMDSNEK TTQQSSLPPP
PPPDSLDQPQ PMEQGSSGVL GGKEEGGKPE RSSSPASALT PEGEATSVTL VEELSLQEAM
RKEPGESSSR KACEVCGQAF PSQAALEEHQ KTHPKEGPLF TCVFCRQGFL ERATLKKHML
LAHHQVQPFA PHGPQNIAAL SLVPGCSPSI TSTGLSPFPR KDDPTIP*
speed 0.60 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