mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999994041429828 (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
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:97058574G>AN/A show variant in all transcripts IGV

HGNC symbol

FHL5

Ensembl transcript ID

ENST00000541107

Genbank transcript ID

NM_001170807

UniProt peptide

Q5TD97

alteration type

single base exchange

alteration region

CDS

DNA changes

c.631G>A
cDNA.816G>A
g.48151G>A

AA changes

V211M Score: 21 explain score(s)

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

211

frameshift

known variant

Reference ID: rs2252816

database	homozygous (A/A)	heterozygous	allele carriers
1000G	389	914	1303
ExAC	9928	12911	22839

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.033	0.022
	-1.157	0.004
(flanking)	1.626	0.65

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
Acc marginally increased	48152	wt: 0.4560 / mu: 0.4767 (marginal change - not scored)	wt: AGACGACTATCCATTCTGCGTGGACTGCTACAACCATCTTT mu: AGACGACTATCCATTCTGCATGGACTGCTACAACCATCTTT	gcgt\|GGAC
Acc gained	48154	0.36	mu: ACGACTATCCATTCTGCATGGACTGCTACAACCATCTTTAT	atgg\|ACTG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

211

mutated

all conserved

211

Ptroglodytes

all identical

ENSPTRG00000018433

211

Mmulatta

all identical

ENSMMUG00000012621

211

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000028259

211

Ggallus

all identical

ENSGALG00000015573

211

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000014805

211

Dmelanogaster

no alignment

FBgn0261565

n/a

Celegans

not conserved

F25H5.1

581

Xtropicalis

all identical

ENSXETG00000001065

211

protein features

start (aa)	end (aa)	feature	details
161	220	DOMAIN	LIM zinc-binding 3.	lost
223	225	TURN		might get lost (downstream of altered splice site)
223	283	DOMAIN	LIM zinc-binding 4.	might get lost (downstream of altered splice site)
231	234	TURN		might get lost (downstream of altered splice site)
237	240	STRAND		might get lost (downstream of altered splice site)
243	246	STRAND		might get lost (downstream of altered splice site)
247	249	HELIX		might get lost (downstream of altered splice site)
253	255	TURN		might get lost (downstream of altered splice site)
254	254	CONFLICT	K -> R (in Ref. 1; AAF85978).	might get lost (downstream of altered splice site)
260	262	STRAND		might get lost (downstream of altered splice site)
264	267	STRAND		might get lost (downstream of altered splice site)
270	273	STRAND		might get lost (downstream of altered splice site)
274	277	TURN		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

855 / 855

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

285 / 285

position of stopcodon in wt / mu cDNA

1040 / 1040

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

186 / 186

chromosome

strand

last intron/exon boundary

877

theoretical NMD boundary in CDS

641

length of CDS

855

coding sequence (CDS) position

631

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

816

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

48151

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

97058574

original gDNA sequence snippet

GAGACGACTATCCATTCTGCGTGGACTGCTACAACCATCTT

altered gDNA sequence snippet

GAGACGACTATCCATTCTGCATGGACTGCTACAACCATCTT

original cDNA sequence snippet

GAGACGACTATCCATTCTGCGTGGACTGCTACAACCATCTT

altered cDNA sequence snippet

GAGACGACTATCCATTCTGCATGGACTGCTACAACCATCTT

wildtype AA sequence

MTTAHFYCQY CTASLLGKKY VLKDDSPYCV TCYDRVFSNY CEECKKPIES DSKDLCYKDR
HWHEGCFKCT KCNHSLVEKP FAAKDERLLC TECYSNECSS KCFHCKRTIM PGSRKMEFKG
NYWHETCFVC ENCRQPIGTK PLISKESGNY CVPCFEKEFA HYCNFCKKVI TSGGITFCDQ
LWHKECFLCS GCRKDLCEEQ FMSRDDYPFC VDCYNHLYAN KCVACSKPIS GLTGAKFICF
QDSQWHSECF NCGKCSVSLV GKGFLTQNKE IFCQKCGSGM DTDI*

mutated AA sequence

MTTAHFYCQY CTASLLGKKY VLKDDSPYCV TCYDRVFSNY CEECKKPIES DSKDLCYKDR
HWHEGCFKCT KCNHSLVEKP FAAKDERLLC TECYSNECSS KCFHCKRTIM PGSRKMEFKG
NYWHETCFVC ENCRQPIGTK PLISKESGNY CVPCFEKEFA HYCNFCKKVI TSGGITFCDQ
LWHKECFLCS GCRKDLCEEQ FMSRDDYPFC MDCYNHLYAN KCVACSKPIS GLTGAKFICF
QDSQWHSECF NCGKCSVSLV GKGFLTQNKE IFCQKCGSGM DTDI*

speed

1.04 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