Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999925818744 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM1514575)
  • protein features (might be) affected
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:16380243A>GN/A show variant in all transcripts   IGV
HGNC symbol CLCNKB
Ensembl transcript ID ENST00000375679
Genbank transcript ID NM_000085
UniProt peptide P51801
alteration type single base exchange
alteration region CDS
DNA changes c.1732A>G
cDNA.1843A>G
g.9972A>G
AA changes K578E Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 578
frameshift no
known variant Reference ID: rs2275166
databasehomozygous (G/G)heterozygousallele carriers
1000G12859442229
ExAC26455-201436312

known disease mutation at this position, please check HGMD for details (HGMD ID CM1514575)
regulatory features H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3630.015
0.1520.163
(flanking)1.7970.893
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 25
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      578VVKVVTSTDVAKYPLVESTESQIL
mutated  all conserved    578VVKVVTSTDVAEYPLVESTESQI
Ptroglodytes  all conserved  ENSPTRG00000000217  577VVKVVTSTDVTEY-LVESTESQI
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000010168  579VVKVVTSTDMAKYLLVESTESQI
Mmusculus  all conserved  ENSMUSG00000033770  578VVKVVTSTDVSQYPLVETRESQT
Ggallus  all conserved  ENSGALG00000003713  576VLAALNATTDKEYAVIESKESPM
Trubripes  all conserved  ENSTRUG00000001694  586IQRAVSSSTEAQIPVVDSNESGN
Drerio  all conserved  ENSDARG00000022560  594VQHILKESTDSELPVVESRDFSV
Dmelanogaster  not conserved  FBgn0051116  691LRSLPLVDSPDNMI
Celegans  not conserved  E04F6.11  588RAFPLVENMESLA
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
551609DOMAINCBS 1.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2064 / 2064
position (AA) of stopcodon in wt / mu AA sequence 688 / 688
position of stopcodon in wt / mu cDNA 2175 / 2175
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 112 / 112
chromosome 1
strand 1
last intron/exon boundary 2128
theoretical NMD boundary in CDS 1966
length of CDS 2064
coding sequence (CDS) position 1732
cDNA position
(for ins/del: last normal base / first normal base)		 1843
gDNA position
(for ins/del: last normal base / first normal base)		 9972
chromosomal position
(for ins/del: last normal base / first normal base)		 16380243
original gDNA sequence snippet TGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGC
altered gDNA sequence snippet TGACCTCCACAGACGTGGCCGAGTATCCCCTGGTGGAGAGC
original cDNA sequence snippet TGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGC
altered cDNA sequence snippet TGACCTCCACAGACGTGGCCGAGTATCCCCTGGTGGAGAGC
wildtype AA sequence MEEFVGLREG SSGNPVTLQE LWGPCPRIRR GIRGGLEWLK QKLFRLGEDW YFLMTLGVLM
ALVSCAMDLA VESVVRAHQW LYREIGDSHL LRYLSWTVYP VALVSFSSGF SQSITPSSGG
SGIPEVKTML AGVVLEDYLD IKNFGAKVVG LSCTLACGST LFLGKVGPFV HLSVMMAAYL
GRVRTTTIGE PENKSKQNEM LVAAAAVGVA TVFAAPFSGV LFSIEVMSSH FSVWDYWRGF
FAATCGAFMF RLLAVFNSEQ ETITSLYKTS FRVDVPFDLP EIFFFVALGG LCGILGSAYL
FCQRIFFGFI RNNRFSSKLL ATSKPVYSAL ATLVLASITY PPSAGRFLAS RLSMKQHLDS
LFDNHSWALM TQNSSPPWPE ELDPQHLWWE WYHPRFTIFG TLAFFLVMKF WMLILATTIP
MPAGYFMPIF VYGAAIGRLF GETLSFIFPE GIVAGGITNP IMPGGYALAG AAAFSGAVTH
TISTALLAFE VTGQIVHALP VLMAVLAANA IAQSCQPSFY DGTVIVKKLP YLPRILGRNI
GSHRVRVEHF MNHSITTLAK DMPLEEVVKV VTSTDVAKYP LVESTESQIL VGIVRRAQLV
QALKAEPPSW APGHQQCLQD ILAAGCPTEP VTLKLSPETS LHEAHNLFEL LNLHSLFVTS
RGRAVGCVSW VEMKKAISNL TNPPAPK*
mutated AA sequence MEEFVGLREG SSGNPVTLQE LWGPCPRIRR GIRGGLEWLK QKLFRLGEDW YFLMTLGVLM
ALVSCAMDLA VESVVRAHQW LYREIGDSHL LRYLSWTVYP VALVSFSSGF SQSITPSSGG
SGIPEVKTML AGVVLEDYLD IKNFGAKVVG LSCTLACGST LFLGKVGPFV HLSVMMAAYL
GRVRTTTIGE PENKSKQNEM LVAAAAVGVA TVFAAPFSGV LFSIEVMSSH FSVWDYWRGF
FAATCGAFMF RLLAVFNSEQ ETITSLYKTS FRVDVPFDLP EIFFFVALGG LCGILGSAYL
FCQRIFFGFI RNNRFSSKLL ATSKPVYSAL ATLVLASITY PPSAGRFLAS RLSMKQHLDS
LFDNHSWALM TQNSSPPWPE ELDPQHLWWE WYHPRFTIFG TLAFFLVMKF WMLILATTIP
MPAGYFMPIF VYGAAIGRLF GETLSFIFPE GIVAGGITNP IMPGGYALAG AAAFSGAVTH
TISTALLAFE VTGQIVHALP VLMAVLAANA IAQSCQPSFY DGTVIVKKLP YLPRILGRNI
GSHRVRVEHF MNHSITTLAK DMPLEEVVKV VTSTDVAEYP LVESTESQIL VGIVRRAQLV
QALKAEPPSW APGHQQCLQD ILAAGCPTEP VTLKLSPETS LHEAHNLFEL LNLHSLFVTS
RGRAVGCVSW VEMKKAISNL TNPPAPK*
speed 1.10 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