mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999999974 (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)

chr14:21770730A>GN/A show variant in all transcripts IGV

HGNC symbol

RPGRIP1

Ensembl transcript ID

ENST00000557771

Genbank transcript ID

N/A

UniProt peptide

Q96KN7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.574A>G
cDNA.612A>G
g.14633A>G

AA changes

K192E Score: 56 explain score(s)

position(s) of altered AA
if AA alteration in CDS

192

frameshift

known variant

Reference ID: rs6571751

database	homozygous (G/G)	heterozygous	allele carriers
1000G	596	1198	1794
ExAC	8837	15093	23930

regulatory features

H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
HNF4A, Transcription Factor, HNF4A Transcription Factor Binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.365	0.04
	0.66	0.054
(flanking)	0.96	0.06

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	14630	wt: 0.9942 / mu: 0.9952 (marginal change - not scored)	wt: TAGCCAGTAAACCCA mu: TAGCCAGTGAACCCA	GCCA\|gtaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

192

mutated

all conserved

192

Ptroglodytes

all conserved

ENSPTRG00000006120

192

LVSGSNSIISFSSVISMAKPIGLCMPNS

Mmulatta

no homologue

Fcatus

all conserved

ENSFCAG00000008751

189

LVPNSSSIISFSKVIIMTKLIGLCMLNS

Mmusculus

all conserved

ENSMUSG00000057132

180

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000076055

189

RST

Dmelanogaster

no homologue

Celegans

all identical

C09G5.8

224

Xtropicalis

all conserved

ENSXETG00000017215

175

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3747 / 3747

position (AA) of stopcodon in wt / mu AA sequence

1249 / 1249

position of stopcodon in wt / mu cDNA

3785 / 3785

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

39 / 39

chromosome

strand

last intron/exon boundary

3673

theoretical NMD boundary in CDS

3584

length of CDS

3747

coding sequence (CDS) position

574

cDNA position
(for ins/del: last normal base / first normal base)

612

gDNA position
(for ins/del: last normal base / first normal base)

14633

chromosomal position
(for ins/del: last normal base / first normal base)

21770730

original gDNA sequence snippet

ACAGAGGTGAAGTAGCCAGTAAACCCAGTGAACTGTGAGTT

altered gDNA sequence snippet

ACAGAGGTGAAGTAGCCAGTGAACCCAGTGAACTGTGAGTT

original cDNA sequence snippet

ACAGAGGTGAAGTAGCCAGTAAACCCAGTGAACTTGCCCAC

altered cDNA sequence snippet

ACAGAGGTGAAGTAGCCAGTGAACCCAGTGAACTTGCCCAC

wildtype AA sequence

MSHLVDPTSG DLPVRDIDAI PLVLPASKGK NMKTQPPLSR MNREELEDSF FRLREDHMLV
KELSWKQQDE IKRLRTTLLR LTAAGRDLRV AEEAAPLSET ARRGQKAGWR QRLSMHQRPQ
MHRLQGHFHC VGPASPRRAQ PRVQVGHRQL HTAGAPVPEK PKRGPRDRLS YTAPPSFKEH
ATNENRGEVA SKPSELAHIM ASNTMQVEEP PKSPEKMWPK DENFEQRSSL ECAQKAAELR
ASIKEKVELI RLKKLLHERN ASLVMTKAQL TEVQEAYETL LQKNQGILSA AHEALLKQVN
ELRAELKEES KKAVSLKSQL EDVSILQMTL KEFQERVEDL EKERKLLNDN YDKLLESMLD
SSDSSSQPHW SNELIAEQLQ QQVSQLQDQL DAELEDKRKV LLELSREKAQ NEDLKLEVTN
ILQKHKQEVE LLQNAATISQ PPDRQSEPAT HPAVLQENTQ IEPSEPKNQE EKKLSQVLNE
LQVSHAETTL ELEKTRDMLI LQRKINVCYQ EELEAMMTKA DNDNRDHKEK LERLTRLLDL
KNNRIKQLEE QLKDVAYGTR PLSLCLETLP AHGDEDKVDI SLLHQGENLF ELHIHQAFLT
SAALAQAGDT QPTTFCTYSF YDFETHCTPL SVGPQPLYDF TSQYVMETDS LFLHYLQEAS
ARLDIHQAMA SEHSTLAAGW ICFDRVLETV EKVHGLATLI GAGGEEFGVL EYWMRLRFPI
KPSLQACNKR KKAQVYLSTD VLGGRKAQEE EFRSESWEPQ NELWIEITKC CGLRSRWLGT
QPSPYAVYRF FTFSDHDTAI IPASNNPYFR DQARFPVLVT SDLDHYLRRE ALSIHVFDDE
DLEPGSYLGR ARVPLLPLAK NESIKGDFNL TDPAEKPNGS IQVQLDWKFP YIPPESFLKP
EAQTKGKDTK DSSKISSEEE KASFPSQDQM ASPEVPIEAG QYRSKRKPPH GGERKEKEHQ
VVSYSRRKHG KRIGVQGKNR MEYLSLNILN GNTPEQVNYT EWKFSETNSF IGDGFKNQHE
EEEMTLSHSA LKQKEPLHPV NDKESSEQGS EVSEAQTTDS DDVIVPPMSQ KYPKADSEKM
CIEIVSLAFY PEAEVMSDEN IKQVYVEYKF YDLPLSETET PVSLRKPRAG EEIHFHFSKV
IDLDPQEQQG RRRFLFDMLN GQDPDQGHLK FTVVSDPLDE EKKECEEVGY AYLQLWQILE
SGRDILEQEL DIVSPEDLAT PIGRLKVSLQ AAAVLHAIYK EMTEDLFS*

mutated AA sequence

MSHLVDPTSG DLPVRDIDAI PLVLPASKGK NMKTQPPLSR MNREELEDSF FRLREDHMLV
KELSWKQQDE IKRLRTTLLR LTAAGRDLRV AEEAAPLSET ARRGQKAGWR QRLSMHQRPQ
MHRLQGHFHC VGPASPRRAQ PRVQVGHRQL HTAGAPVPEK PKRGPRDRLS YTAPPSFKEH
ATNENRGEVA SEPSELAHIM ASNTMQVEEP PKSPEKMWPK DENFEQRSSL ECAQKAAELR
ASIKEKVELI RLKKLLHERN ASLVMTKAQL TEVQEAYETL LQKNQGILSA AHEALLKQVN
ELRAELKEES KKAVSLKSQL EDVSILQMTL KEFQERVEDL EKERKLLNDN YDKLLESMLD
SSDSSSQPHW SNELIAEQLQ QQVSQLQDQL DAELEDKRKV LLELSREKAQ NEDLKLEVTN
ILQKHKQEVE LLQNAATISQ PPDRQSEPAT HPAVLQENTQ IEPSEPKNQE EKKLSQVLNE
LQVSHAETTL ELEKTRDMLI LQRKINVCYQ EELEAMMTKA DNDNRDHKEK LERLTRLLDL
KNNRIKQLEE QLKDVAYGTR PLSLCLETLP AHGDEDKVDI SLLHQGENLF ELHIHQAFLT
SAALAQAGDT QPTTFCTYSF YDFETHCTPL SVGPQPLYDF TSQYVMETDS LFLHYLQEAS
ARLDIHQAMA SEHSTLAAGW ICFDRVLETV EKVHGLATLI GAGGEEFGVL EYWMRLRFPI
KPSLQACNKR KKAQVYLSTD VLGGRKAQEE EFRSESWEPQ NELWIEITKC CGLRSRWLGT
QPSPYAVYRF FTFSDHDTAI IPASNNPYFR DQARFPVLVT SDLDHYLRRE ALSIHVFDDE
DLEPGSYLGR ARVPLLPLAK NESIKGDFNL TDPAEKPNGS IQVQLDWKFP YIPPESFLKP
EAQTKGKDTK DSSKISSEEE KASFPSQDQM ASPEVPIEAG QYRSKRKPPH GGERKEKEHQ
VVSYSRRKHG KRIGVQGKNR MEYLSLNILN GNTPEQVNYT EWKFSETNSF IGDGFKNQHE
EEEMTLSHSA LKQKEPLHPV NDKESSEQGS EVSEAQTTDS DDVIVPPMSQ KYPKADSEKM
CIEIVSLAFY PEAEVMSDEN IKQVYVEYKF YDLPLSETET PVSLRKPRAG EEIHFHFSKV
IDLDPQEQQG RRRFLFDMLN GQDPDQGHLK FTVVSDPLDE EKKECEEVGY AYLQLWQILE
SGRDILEQEL DIVSPEDLAT PIGRLKVSLQ AAAVLHAIYK EMTEDLFS*

speed

0.44 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