Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999888765067865 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
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 ENST00000404681
Genbank transcript ID N/A
UniProt peptide Q63HM2
alteration type single base exchange
alteration region CDS
DNA changes c.1231G>A
cDNA.1231G>A
g.23425G>A
AA changes V411I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 411
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      411IILWILREIQSVYIIGIFRNPFYP
mutated  all conserved    411IILWILREIQSIYIIGIFRNP
Ptroglodytes  all identical  ENSPTRG00000006405  411IILWILREIQSVYIIGIFRNP
Mmulatta  all identical  ENSMMUG00000015443  180IILWILREIQSVYIIGIFRNPFY
Fcatus  no alignment  ENSFCAG00000019228  n/a
Mmusculus  all conserved  ENSMUSG00000034501  423SIVWILRETQSIYIFGIFRNPFY
Ggallus  all identical  ENSGALG00000011922  421VTMWILREIQRVYLFGTFRNPFY
Trubripes  not conserved  ENSTRUG00000010325  427GICWALREIQGPYVLGGMFLNPLY
Drerio  not conserved  ENSDARG00000060785  428FITRLLRELQGACIIGGAMLNPLY
Dmelanogaster  no homologue    
Celegans  no alignment  B0511.12  n/a
Xtropicalis  not conserved  ENSXETG00000016956  419FFLWILKELQGAYILGIVRNPFY
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3519 / 3519
position (AA) of stopcodon in wt / mu AA sequence 1173 / 1173
position of stopcodon in wt / mu cDNA 3519 / 3519
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 1 / 1
chromosome 14
strand 1
last intron/exon boundary 3268
theoretical NMD boundary in CDS 3217
length of CDS 3519
coding sequence (CDS) position 1231
cDNA position
(for ins/del: last normal base / first normal base)		 1231
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 MSPDVPLLND YKQDFFLKRF PQTVLGGPRF KLGYCAPPYI YVNQIILFLM PWVWGGVGTL
LYQLGILKDY YTAALSGGLM LFTAFVIQFT SLYAKNKSTT VERILTTDIL AEEDEHEFTS
CTGAETVKFL IPGKKYVANT VFHSILAGLA CGLGTWYLLP NRITLLYGST GGTALLFFFG
WMTLCIAEYS LIVNTATETA TFQTQDTYEI IPLMRPLYIF FFVSVDLAHR FVVNMPALEH
MNQILHILFV FLPFLWALGT LPPPDALLLW AMEQVLEFGL GGSSMSTHLR LLVMFIMSAG
TAIASYFIPS TVGVVLFMTG FGFLLSLNLS DMGHKIGTKS KDLPSGPEKH FSWKECLFYI
IILVLALLET SLLHHFAGFS QISKSNSQAI VGYGLMILLI ILWILREIQS VYIIGIFRNP
FYPKDVQTVT VFFEKQTRLM KIGIVRRILL TLVSPFAMIA FLSLDSSLQG LHSVSVCIGF
TRAFRMVWQN TENALLETVI VSTVHLISST DIWWNRSLDT GLRLLLVGII RDRLIQFISK
LQFAVTVLLT SWTEKKQRRK TTATLCILNI VFSPFVLVII VFSTLLSSPL LPLFTLPVFL
VGFPRPIQSW PGAAGTTACV CADTVYYYQM VPRLTAVLQT AMAAGSLGLL LPGSHYLGRF
QDRLMWIMIL ECGYTYCSIN IKGLELQETS CHTAEARRVD EVFEDAFEQE YTRVCSLNEH
FGNVLTPCTV LPVKLYSDAR NVLSGIIDSH ENLKEFKGDL IKVLVWILVQ YCSKRPGMKE
NVHNTENKGK APLMLPALNT LPPPKSPEDI DSLNSETFND WSDDNIFDDE PTIKKVIEEK
HQLKDLPGTN LFIPGSVESQ RVGDHSTGTV PENDLYKAVL LGYPAVDKGK QEDMPYIPLM
EFSCSHSHLV CLPAEWRTSC MPSSKMKEMS SLFPEDWYQF VLRQLECYHS EEKASNVLEE
IAKDKVLKDF YVHTVMTCYF SLFGIDNMAP SPGHILRVYG GVLPWSVALD WLTEKPELFQ
LALKAFRYTL KLMIDKASLG PIEDFRELIK YLEEYERDWY IGLVSDEKWK EAILQEKPYL
FSLGYDSNMG IYTGRVLSLQ ELLIQVGKLN PEAVRGQWAN LSWELLYATN DDEERYSIQA
HPLLLRNLTV QAAEPPLGYP IYSSKPLHIH LY*
mutated AA sequence MSPDVPLLND YKQDFFLKRF PQTVLGGPRF KLGYCAPPYI YVNQIILFLM PWVWGGVGTL
LYQLGILKDY YTAALSGGLM LFTAFVIQFT SLYAKNKSTT VERILTTDIL AEEDEHEFTS
CTGAETVKFL IPGKKYVANT VFHSILAGLA CGLGTWYLLP NRITLLYGST GGTALLFFFG
WMTLCIAEYS LIVNTATETA TFQTQDTYEI IPLMRPLYIF FFVSVDLAHR FVVNMPALEH
MNQILHILFV FLPFLWALGT LPPPDALLLW AMEQVLEFGL GGSSMSTHLR LLVMFIMSAG
TAIASYFIPS TVGVVLFMTG FGFLLSLNLS DMGHKIGTKS KDLPSGPEKH FSWKECLFYI
IILVLALLET SLLHHFAGFS QISKSNSQAI VGYGLMILLI ILWILREIQS IYIIGIFRNP
FYPKDVQTVT VFFEKQTRLM KIGIVRRILL TLVSPFAMIA FLSLDSSLQG LHSVSVCIGF
TRAFRMVWQN TENALLETVI VSTVHLISST DIWWNRSLDT GLRLLLVGII RDRLIQFISK
LQFAVTVLLT SWTEKKQRRK TTATLCILNI VFSPFVLVII VFSTLLSSPL LPLFTLPVFL
VGFPRPIQSW PGAAGTTACV CADTVYYYQM VPRLTAVLQT AMAAGSLGLL LPGSHYLGRF
QDRLMWIMIL ECGYTYCSIN IKGLELQETS CHTAEARRVD EVFEDAFEQE YTRVCSLNEH
FGNVLTPCTV LPVKLYSDAR NVLSGIIDSH ENLKEFKGDL IKVLVWILVQ YCSKRPGMKE
NVHNTENKGK APLMLPALNT LPPPKSPEDI DSLNSETFND WSDDNIFDDE PTIKKVIEEK
HQLKDLPGTN LFIPGSVESQ RVGDHSTGTV PENDLYKAVL LGYPAVDKGK QEDMPYIPLM
EFSCSHSHLV CLPAEWRTSC MPSSKMKEMS SLFPEDWYQF VLRQLECYHS EEKASNVLEE
IAKDKVLKDF YVHTVMTCYF SLFGIDNMAP SPGHILRVYG GVLPWSVALD WLTEKPELFQ
LALKAFRYTL KLMIDKASLG PIEDFRELIK YLEEYERDWY IGLVSDEKWK EAILQEKPYL
FSLGYDSNMG IYTGRVLSLQ ELLIQVGKLN PEAVRGQWAN LSWELLYATN DDEERYSIQA
HPLLLRNLTV QAAEPPLGYP IYSSKPLHIH LY*
speed 0.73 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