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mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999807013 (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 CM135057)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:118529703G>AN/A show variant in all transcripts   IGV
HGNC symbol TREH
Ensembl transcript ID ENST00000529101
Genbank transcript ID N/A
UniProt peptide O43280
alteration type single base exchange
alteration region CDS
DNA changes c.1456C>T
cDNA.1502C>T
g.20697C>T
AA changes R486W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 486
frameshift no
known variant Reference ID: rs2276064
databasehomozygous (A/A)heterozygousallele carriers
1000G100366466
ExAC145363147767

known disease mutation at this position, please check HGMD for details (HGMD ID CM135057)
regulatory features CTCF, Transcription Factor, CCCTC-binding factor
DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0810.003
0.6750.002
(flanking)0.1830.001
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 24
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      486VIRGLAKAPLRRAQEVAFQLAQNW
mutated  not conserved    486KAPLRWAQEVAFQLAQN
Ptroglodytes  all identical  ENSPTRG00000004352  486KAPLRRAQEVAFQLAQN
Mmulatta  all identical  ENSMMUG00000002549  346VIRGLAKAPLPRAQEVAFQLAQN
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000032098  483PRTQEVAFQLAQN
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000012008  447EAKQLASELAQR
Drerio  not conserved  ENSDARG00000077911  300IIEGLSGLHSAHAQELAFSLAQR
Dmelanogaster  not conserved  FBgn0003748  513LVEGLNNLNTPEAKNMSL
Celegans  all conserved  F57B10.7  468VIEGFRTTGDIKLMKVAEKMATS
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1734 / 1734
position (AA) of stopcodon in wt / mu AA sequence 578 / 578
position of stopcodon in wt / mu cDNA 1780 / 1780
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 47 / 47
chromosome 11
strand -1
last intron/exon boundary 1646
theoretical NMD boundary in CDS 1549
length of CDS 1734
coding sequence (CDS) position 1456
cDNA position
(for ins/del: last normal base / first normal base)		 1502
gDNA position
(for ins/del: last normal base / first normal base)		 20697
chromosomal position
(for ins/del: last normal base / first normal base)		 118529703
original gDNA sequence snippet TGGCCAAGGCACCTTTACGTCGGGCCCAGGAAGTGGCTTTC
altered gDNA sequence snippet TGGCCAAGGCACCTTTACGTTGGGCCCAGGAAGTGGCTTTC
original cDNA sequence snippet TGGCCAAGGCACCTTTACGTCGGGCCCAGGAAGTGGCTTTC
altered cDNA sequence snippet TGGCCAAGGCACCTTTACGTTGGGCCCAGGAAGTGGCTTTC
wildtype AA sequence MPGRTWELCL LLLLGLGLGS QEALPPPCES EIYCHGELLN QVQMAKLYQD DKQFVDMPLS
IAPEQVLQTF TELSRDHNHS IPREQLQAFV HEHFQAKGQE LQPWTPADWK DSPQFLQKIS
DAKLRAWAGQ LHQLWKKLGK KMKPEVLSHP ERFSLIYSEH PFIVPGGRFV EFYYWDSYWV
MEGLLLSEMA ETVKGMLQNF LDLVKTYGHV PNGGRVYYLQ RSQPPLLTLM MDCYLTHTND
TAFLQENIET LALELDFWTK NRTVSVSLEG KNYLLNRYYV PYGGPRPESY SKDVELADTL
PEGDREALWA ELKAGAESGW DFSSRWLIGG PNPNSLSGIR TSKLVPVDLN AFLCQAEELM
SNFYSRLGND SQATKYRILR SQRLAALNTV LWDEQTGAWF DYDLEKKKKN REFYPSNLTP
LWAGCFSDPG VADKALKYLE DNRILTYQYG IPTSLQKTGQ QWDFPNAWAP LQDLVIRGLA
KAPLRRAQEV AFQLAQNWIR TNFDVYSQKS AMYEKYDVSN GGQPGGGGEY EVQEGFGWTN
GVVLMLLDRY GDRLTSGPKL PFLEPHCLGP PFCPASC*
mutated AA sequence MPGRTWELCL LLLLGLGLGS QEALPPPCES EIYCHGELLN QVQMAKLYQD DKQFVDMPLS
IAPEQVLQTF TELSRDHNHS IPREQLQAFV HEHFQAKGQE LQPWTPADWK DSPQFLQKIS
DAKLRAWAGQ LHQLWKKLGK KMKPEVLSHP ERFSLIYSEH PFIVPGGRFV EFYYWDSYWV
MEGLLLSEMA ETVKGMLQNF LDLVKTYGHV PNGGRVYYLQ RSQPPLLTLM MDCYLTHTND
TAFLQENIET LALELDFWTK NRTVSVSLEG KNYLLNRYYV PYGGPRPESY SKDVELADTL
PEGDREALWA ELKAGAESGW DFSSRWLIGG PNPNSLSGIR TSKLVPVDLN AFLCQAEELM
SNFYSRLGND SQATKYRILR SQRLAALNTV LWDEQTGAWF DYDLEKKKKN REFYPSNLTP
LWAGCFSDPG VADKALKYLE DNRILTYQYG IPTSLQKTGQ QWDFPNAWAP LQDLVIRGLA
KAPLRWAQEV AFQLAQNWIR TNFDVYSQKS AMYEKYDVSN GGQPGGGGEY EVQEGFGWTN
GVVLMLLDRY GDRLTSGPKL PFLEPHCLGP PFCPASC*
speed 1.12 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