Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 4.7686418181811e-08 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:116950734G>AN/A show variant in all transcripts   IGV
HGNC symbol RSPH4A
Ensembl transcript ID ENST00000229554
Genbank transcript ID NM_001010892
UniProt peptide Q5TD94
alteration type single base exchange
alteration region CDS
DNA changes c.1667G>A
cDNA.1804G>A
g.13093G>A
AA changes R556H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 556
frameshift no
known variant Reference ID: rs6927567
databasehomozygous (A/A)heterozygousallele carriers
1000G113800913
ExAC28772010922986
regulatory features Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
SP1, Transcription Factor, SP1 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)5.2791
3.7021
(flanking)0.6551
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally decreased13088wt: 0.3542 / mu: 0.3312 (marginal change - not scored)wt: TCTTGCAACATTCATTCCCAGGGTCGCTGTAATTGGTTCAA
mu: TCTTGCAACATTCATTCCCAGGGTCACTGTAATTGGTTCAA		 ccag|GGTC
distance from splice site 5
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      556VHHVQHILSQGRCNWFNSIQKNEE
mutated  not conserved    556VHHVQHILSQGHCNWFNSIQKNE
Ptroglodytes  all identical  ENSPTRG00000018535  556VHHVQHILSQGRCNWFNSIQKN-
Mmulatta  all identical  ENSMMUG00000001805  556VHHVQHILSQGRCNWFNSIQKNE
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000039552  554VHHVQYILPQGRCNWFNPIQKDEDE
Ggallus  all identical  ENSGALG00000013281  385VHHVPSILKQGRCVWFNPLQKTE
Trubripes  all identical  ENSTRUG00000007282  323VHHVQHILPQGRCTWLNMVVKKSAHL
Drerio  all identical  ENSDARG00000067606  366VHHVQHILTQGRCVWVNV
Dmelanogaster  all identical  FBgn0034957  510NILNQQGRVVWYDEEKARKEREKALALYLKMQMLGEMEE
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000019096  364VHHVQHILPQGRCVWVNTSV
protein features
start (aa)end (aa)featuredetails 
507586COMPBIASGlu-rich.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2151 / 2151
position (AA) of stopcodon in wt / mu AA sequence 717 / 717
position of stopcodon in wt / mu cDNA 2288 / 2288
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 138 / 138
chromosome 6
strand 1
last intron/exon boundary 2054
theoretical NMD boundary in CDS 1866
length of CDS 2151
coding sequence (CDS) position 1667
cDNA position
(for ins/del: last normal base / first normal base)		 1804
gDNA position
(for ins/del: last normal base / first normal base)		 13093
chromosomal position
(for ins/del: last normal base / first normal base)		 116950734
original gDNA sequence snippet CAACATTCATTCCCAGGGTCGCTGTAATTGGTTCAACTCCA
altered gDNA sequence snippet CAACATTCATTCCCAGGGTCACTGTAATTGGTTCAACTCCA
original cDNA sequence snippet GCATATTCTCTCTCAGGGTCGCTGTAATTGGTTCAACTCCA
altered cDNA sequence snippet GCATATTCTCTCTCAGGGTCACTGTAATTGGTTCAACTCCA
wildtype AA sequence MEDSTSPKQE KENQEELGET RRPWEGKTAA SPQYSEPESS EPLEAKQGPE TGRQSRSSRP
WSPQSRAKTP LGGPAGPETS SPAPVSPREP SSSPSPLAPA RQDLAAPPQS DRTTSVIPEA
GTPYPDPLEQ SSDKRESTPH HTSQSEGNTF QQSQQPKPHL CGRRDVSYNN AKQKELRFDV
FQEEDSNSDY DLQQPAPGGS EVAPSMLEIT IQNAKAYLLK TSSNSGFNLY DHLSNMLTKI
LNERPENAVD IFENISQDVK MAHFSKKFDA LQNENELLPT YEIAEKQKAL FLQGHLEGVD
QELEDEIAEN ALPNVMESAF YFEQAGVGLG TDETYRIFLA LKQLTDTHPI QRCRFWGKIL
GLEMNYIVAE VEFREGEDEE EVEEEDVAEE RDNGESEAHE DEEDELPKSF YKAPQAIPKE
ESRTGANKYV YFVCNEPGRP WVKLPPVIPA QIVIARKIKK FFTGRLDAPI ISYPPFPGNE
SNYLRAQIAR ISAGTHVSPL GFYQFGEEEG EEEEEAEGGR NSFEENPDFE GIQVIDLVES
LSNWVHHVQH ILSQGRCNWF NSIQKNEEEE EEEDEEKDDS DYIEQEVGLP LLTPISEDLE
IQNIPPWTTR LSSNLIPQYA IAVLQSNLWP GAYAFSNGKK FENFYIGWGH KYSPDNYTPP
VPPPVYQEYP SGPEITEMDD PSVEEEQAFR AAQEAVLLAA ENEESEEDED EEDDYD*
mutated AA sequence MEDSTSPKQE KENQEELGET RRPWEGKTAA SPQYSEPESS EPLEAKQGPE TGRQSRSSRP
WSPQSRAKTP LGGPAGPETS SPAPVSPREP SSSPSPLAPA RQDLAAPPQS DRTTSVIPEA
GTPYPDPLEQ SSDKRESTPH HTSQSEGNTF QQSQQPKPHL CGRRDVSYNN AKQKELRFDV
FQEEDSNSDY DLQQPAPGGS EVAPSMLEIT IQNAKAYLLK TSSNSGFNLY DHLSNMLTKI
LNERPENAVD IFENISQDVK MAHFSKKFDA LQNENELLPT YEIAEKQKAL FLQGHLEGVD
QELEDEIAEN ALPNVMESAF YFEQAGVGLG TDETYRIFLA LKQLTDTHPI QRCRFWGKIL
GLEMNYIVAE VEFREGEDEE EVEEEDVAEE RDNGESEAHE DEEDELPKSF YKAPQAIPKE
ESRTGANKYV YFVCNEPGRP WVKLPPVIPA QIVIARKIKK FFTGRLDAPI ISYPPFPGNE
SNYLRAQIAR ISAGTHVSPL GFYQFGEEEG EEEEEAEGGR NSFEENPDFE GIQVIDLVES
LSNWVHHVQH ILSQGHCNWF NSIQKNEEEE EEEDEEKDDS DYIEQEVGLP LLTPISEDLE
IQNIPPWTTR LSSNLIPQYA IAVLQSNLWP GAYAFSNGKK FENFYIGWGH KYSPDNYTPP
VPPPVYQEYP SGPEITEMDD PSVEEEQAFR AAQEAVLLAA ENEESEEDED EEDDYD*
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