Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999750842992219 (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
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:60582053G>AN/A show variant in all transcripts   IGV
HGNC symbol PCNX4
Ensembl transcript ID ENST00000406949
Genbank transcript ID N/A
UniProt peptide Q63HM2
alteration type single base exchange
alteration region CDS
DNA changes c.529G>A
cDNA.1035G>A
g.23425G>A
AA changes V177I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 177
frameshift no
known variant Reference ID: rs150688
databasehomozygous (A/A)heterozygousallele carriers
1000G11379882125
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0660.625
0.6580.631
(flanking)2.1750.643
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 127
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      177IILWILREIQSVYIIGIFRNPFYP
mutated  all conserved    177IILWILREIQSIYII
Ptroglodytes  all identical  ENSPTRG00000006405  411IILWILREIQSVYII
Mmulatta  all identical  ENSMMUG00000015443  180IILWILREIQSVYII
Fcatus  no alignment  ENSFCAG00000019228  n/a
Mmusculus  all conserved  ENSMUSG00000034501  423RETQSIYIFGIFRNPFY
Ggallus  all identical  ENSGALG00000011922  421EIQRVYLFGTFRNPFY
Trubripes  not conserved  ENSTRUG00000010325  427GICWALREIQGPYVLGGMFLNPLY
Drerio  not conserved  ENSDARG00000060785  428ITRLLRELQGACIIGGAMLNPLY
Dmelanogaster  no homologue    
Celegans  no alignment  B0511.12  n/a
Xtropicalis  not conserved  ENSXETG00000016956  418KELQGAYILGIVRNPFY
protein features
start (aa)end (aa)featuredetails 
173193TRANSMEMHelical; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2622 / 2622
position (AA) of stopcodon in wt / mu AA sequence 874 / 874
position of stopcodon in wt / mu cDNA 3128 / 3128
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 507 / 507
chromosome 14
strand 1
last intron/exon boundary 3072
theoretical NMD boundary in CDS 2515
length of CDS 2622
coding sequence (CDS) position 529
cDNA position
(for ins/del: last normal base / first normal base)		 1035
gDNA position
(for ins/del: last normal base / first normal base)		 23425
chromosomal position
(for ins/del: last normal base / first normal base)		 60582053
original gDNA sequence snippet TACTTAGAGAAATTCAAAGCGTATATATCATTGGAATTTTC
altered gDNA sequence snippet TACTTAGAGAAATTCAAAGCATATATATCATTGGAATTTTC
original cDNA sequence snippet TACTTAGAGAAATTCAAAGCGTATATATCATTGGAATTTTC
altered cDNA sequence snippet TACTTAGAGAAATTCAAAGCATATATATCATTGGAATTTTC
wildtype AA sequence MPALEHMNQI LHILFVFLPF LWALGTLPPP DALLLWAMEQ VLEFGLGGSS MSTHLRLLVM
FIMSAGTAIA SYFIPSTVGV VLFMTGFGFL LSLNLSDMGH KIGTKSKDLP SGPEKHFSWK
ECLFYIIILV LALLETSLLH HFAGFSQISK SNSQAIVGYG LMILLIILWI LREIQSVYII
GIFRNPFYPK DVQTVTVFFE KQTRLMKIGI VRRILLTLVS PFAMIAFLSL DSSLQGLHSV
SVCIGFTRAF RMVWQNTENA LLETVIVSTV HLISSTDIWW NRSLDTGLRL LLVGIIRDRL
IQFISKLQFA VTVLLTSWTE KKQRRKTTAT LCILNIVFSP FVLVIIVFST LLSSPLLPLF
TLPVFLVGFP RPIQSWPGAA GTTACVCADT VYYYQMVPRL TAVLQTAMAA GSLGLLLPGS
HYLGRFQDRL MWIMILECGY TYCSINIKGL ELQETSCHTA EARRVDEVFE DAFEQEYTRV
CSLNEHFGNV LTPCTVLPVK LYSDARNVLS GIIDSHENLK EFKGDLIKVL VWILVQYCSK
RPGMKENVHN TENKGKAPLM LPALNTLPPP KSPEDIDSLN SETFNDWSDD NIFDDEPTIK
KVIEEKHQLK DLPGTNLFIP GSVESQRVGD HSTGTVPEND LYKAVLLGYP AVDKGKQEDM
PYIPLMEFSC SHSHLVCLPA EWRTSCMPSS KMKEMSSLFP EDWYQFVLRQ LECYHSEEKA
SNVLEEIAKD KVLKDFYVHT VMTCYFSLFG IDNMAPSPGH ILRVYGGVLP WSVALDWLTE
KPELFQLALK AFRYTLKLMI DKASLGPIED FRELIKYLEE YERDWYIGLV SDEKWKEAIL
QEKPYLFSLG YDSNMPGPAL EISRVNRNLW SQI*
mutated AA sequence MPALEHMNQI LHILFVFLPF LWALGTLPPP DALLLWAMEQ VLEFGLGGSS MSTHLRLLVM
FIMSAGTAIA SYFIPSTVGV VLFMTGFGFL LSLNLSDMGH KIGTKSKDLP SGPEKHFSWK
ECLFYIIILV LALLETSLLH HFAGFSQISK SNSQAIVGYG LMILLIILWI LREIQSIYII
GIFRNPFYPK DVQTVTVFFE KQTRLMKIGI VRRILLTLVS PFAMIAFLSL DSSLQGLHSV
SVCIGFTRAF RMVWQNTENA LLETVIVSTV HLISSTDIWW NRSLDTGLRL LLVGIIRDRL
IQFISKLQFA VTVLLTSWTE KKQRRKTTAT LCILNIVFSP FVLVIIVFST LLSSPLLPLF
TLPVFLVGFP RPIQSWPGAA GTTACVCADT VYYYQMVPRL TAVLQTAMAA GSLGLLLPGS
HYLGRFQDRL MWIMILECGY TYCSINIKGL ELQETSCHTA EARRVDEVFE DAFEQEYTRV
CSLNEHFGNV LTPCTVLPVK LYSDARNVLS GIIDSHENLK EFKGDLIKVL VWILVQYCSK
RPGMKENVHN TENKGKAPLM LPALNTLPPP KSPEDIDSLN SETFNDWSDD NIFDDEPTIK
KVIEEKHQLK DLPGTNLFIP GSVESQRVGD HSTGTVPEND LYKAVLLGYP AVDKGKQEDM
PYIPLMEFSC SHSHLVCLPA EWRTSCMPSS KMKEMSSLFP EDWYQFVLRQ LECYHSEEKA
SNVLEEIAKD KVLKDFYVHT VMTCYFSLFG IDNMAPSPGH ILRVYGGVLP WSVALDWLTE
KPELFQLALK AFRYTLKLMI DKASLGPIED FRELIKYLEE YERDWYIGLV SDEKWKEAIL
QEKPYLFSLG YDSNMPGPAL EISRVNRNLW SQI*
speed 0.96 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