MutationT@ster 2025

NEVER press reload or F5 - unless you want to start from the very beginning.
Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000301732
Querying Taster for transcript #2: ENST00000382381
MT speed 0.45 s - this script 2.930901 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Prediction problem	Splice site change	Known ClinVar disease mutation	Potential ClinVar disease mutation	Amino acid changes	Variant type	dbSNP ID	Protein length	Features at a glance
ENST00000301732(MANE Select)	ABCA3	Deleterious	94\|6	simple_aae		Yes				Single base exchange		Normal	Amino acid sequence changed Heterozygous in gnomAD Protein features (might be) affected Splice site changes
ENST00000382381	ABCA3	Deleterious	97\|3	simple_aae		Yes				Single base exchange		Normal	Amino acid sequence changed Heterozygous in gnomAD Splice site changes

MutationT@ster 2025

Variant:

16:2317763T>A_1_ENST00000301732

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Protein features (might be) affected
Splice site changes

Model: simple_aae
Tree vote: 94|6 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr16:2317763T>A (GRCh38)

Gene symbol

ABCA3

Gene constraints

LOEUF: 0.61, LOF (oe): 0.51, misssense (oe): 0.93, synonymous (oe): 1.07 ? (gnomAD)

Ensembl transcript ID

ENST00000301732.10

Genbank transcript ID

NM_001089 (exact from MANE)

UniProt / AlphaMissense peptide

ABCA3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.875A>T
g.22984A>T

AA changes

AAE:	E292V	?
Score:	121

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs149989682
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	20	7276	7296

Protein conservation

Species	Match	AA	Alignment
Human		292	A	V	V	Q	E	K	E	R	R	L	K	E	Y	M	R	M	M	G	L	S	S	W	L	H
mutated	not conserved	292	A	V	V	Q	E	K	E	R	R	L	K	V	Y	M	R	M	M	G	L	S
Ptroglodytes	all identical	292	A	V	V	Q	E	K	E	R	R	L	K	E	Y	M	R	M	M	G	L	S
Mmulatta	all identical	292	A	V	V	Q	E	K	E	R	R	L	K	E	Y	M	R	M	M	G	L	S
Fcatus	all identical	292	A	V	V	Q	E	K	E	R	R	L	K	E	Y	M	R	M	M	G	L	S
Mmusculus	all identical	292	A	V	V	Q	E	K	E	K	K	L	K	E	Y	M	R	M	M	G	L	N
Ggallus	all identical	318	A	V	V	H	E	K	E	K	K	L	K	E	Y	M	H	M	M	G	L	S
Trubripes	all identical	284	S	V	V	Q	E	K	E	R	K	L	K	E	Y	M	K	M	M	G	L
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	308	A	L	V	L	E	K	E	R	K	L	K	E	Y	M	R	V

Protein features

Start (aa)	End (aa)	Feature
1	1704	CHAIN	lost
175	1704	CHAIN	lost
290	295	HELIX	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.872	1
	7.412	1
(flanking)	7.309	1

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor weakened	22982	wt: 9.88 / mu: 11.27	-	wt: ctctccccag\|GAGTACATGC mu: ctctccccag\|GTGTACATGC

Distance from splice site

2

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

16

Strand

-1

Original gDNA sequence snippet

TGATGGCTTCTCTCCCCAGGAGTACATGCGCATGATGGGGC

Altered gDNA sequence snippet

TGATGGCTTCTCTCCCCAGGTGTACATGCGCATGATGGGGC

Original cDNA sequence snippet

GAAGGAAAGGAGGCTGAAGGAGTACATGCGCATGATGGGGC

Altered cDNA sequence snippet

GAAGGAAAGGAGGCTGAAGGTGTACATGCGCATGATGGGGC

Wildtype AA sequence

MAVLRQLALL LWKNYTLQKR KVLVTVLELF LPLLFSGILI WLRLKIQSEN VPNATIYPGQ
SIQELPLFFT FPPPGDTWEL AYIPSHSDAA KTVTETVRRA LVINMRVRGF PSEKDFEDYI
RYDNCSSSVL AAVVFEHPFN HSKEPLPLAV KYHLRFSYTR RNYMWTQTGS FFLKETEGWH
TTSLFPLFPN PGPREPTSPD GGEPGYIREG FLAVQHAVDR AIMEYHADAA TRQLFQRLTV
TIKRFPYPPF IADPFLVAIQ YQLPLLLLLS FTYTALTIAR AVVQEKERRL KEYMRMMGLS
SWLHWSAWFL LFFLFLLIAA SFMTLLFCVK VKPNVAVLSR SDPSLVLAFL LCFAISTISF
SFMVSTFFSK ANMAAAFGGF LYFFTYIPYF FVAPRYNWMT LSQKLCSCLL SNVAMAMGAQ
LIGKFEAKGM GIQWRDLLSP VNVDDDFCFG QVLGMLLLDS VLYGLVTWYM EAVFPGQFGV
PQPWYFFIMP SYWCGKPRAV AGKEEEDSDP EKALRNEYFE AEPEDLVAGI KIKHLSKVFR
VGNKDRAAVR DLNLNLYEGQ ITVLLGHNGA GKTTTLSMLT GLFPPTSGRA YISGYEISQD
MVQIRKSLGL CPQHDILFDN LTVAEHLYFY AQLKGLSRQK CPEEVKQMLH IIGLEDKWNS
RSRFLSGGMR RKLSIGIALI AGSKVLILDE PTSGMDAISR RAIWDLLQRQ KSDRTIVLTT
HFMDEADLLG DRIAIMAKGE LQCCGSSLFL KQKYGAGYHM TLVKEPHCNP EDISQLVHHH
VPNATLESSA GAELSFILPR ESTHRFEGLF AKLEKKQKEL GIASFGASIT TMEEVFLRVG
KLVDSSMDIQ AIQLPALQYQ HERRASDWAV DSNLCGAMDP SDGIGALIEE ERTAVKLNTG
LALHCQQFWA MFLKKAAYSW REWKMVAAQV LVPLTCVTLA LLAINYSSEL FDDPMLRLTL
GEYGRTVVPF SVPGTSQLGQ QLSEHLKDAL QAEGQEPREV LGDLEEFLIF RASVEGGGFN
ERCLVAASFR DVGERTVVNA LFNNQAYHSP ATALAVVDNL LFKLLCGPHA SIVVSNFPQP
RSALQAAKDQ FNEGRKGFDI ALNLLFAMAF LASTFSILAV SERAVQAKHV QFVSGVHVAS
FWLSALLWDL ISFLIPSLLL LVVFKAFDVR AFTRDGHMAD TLLLLLLYGW AIIPLMYLMN
FFFLGAATAY TRLTIFNILS GIATFLMVTI MRIPAVKLEE LSKTLDHVFL VLPNHCLGMA
VSSFYENYET RRYCTSSEVA AHYCKKYNIQ YQENFYAWSA PGVGRFVASM AASGCAYLIL
LFLIETNLLQ RLRGILCALR RRRTLTELYT RMPVLPEDQD VADERTRILA PSPDSLLHTP
LIIKELSKVY EQRVPLLAVD RLSLAVQKGE CFGLLGFNGA GKTTTFKMLT GEESLTSGDA
FVGGHRISSD VGKVRQRIGY CPQFDALLDH MTGREMLVMY ARLRGIPERH IGACVENTLR
GLLLEPHANK LVRTYSGGNK RKLSTGIALI GEPAVIFLDE PSTGMDPVAR RLLWDTVARA
RESGKAIIIT SHSMEECEAL CTRLAIMVQG QFKCLGSPQH LKSKFGSGYS LRAKVQSEGQ
QEALEEFKAF VDLTFPGSVL EDEHQGMVHY HLPGRDLSWA KVFGILEKAK EKYGVDDYSV
SQISLEQVFL SFAHLQPPTA EEGR*

Mutated AA sequence

MAVLRQLALL LWKNYTLQKR KVLVTVLELF LPLLFSGILI WLRLKIQSEN VPNATIYPGQ
SIQELPLFFT FPPPGDTWEL AYIPSHSDAA KTVTETVRRA LVINMRVRGF PSEKDFEDYI
RYDNCSSSVL AAVVFEHPFN HSKEPLPLAV KYHLRFSYTR RNYMWTQTGS FFLKETEGWH
TTSLFPLFPN PGPREPTSPD GGEPGYIREG FLAVQHAVDR AIMEYHADAA TRQLFQRLTV
TIKRFPYPPF IADPFLVAIQ YQLPLLLLLS FTYTALTIAR AVVQEKERRL KVYMRMMGLS
SWLHWSAWFL LFFLFLLIAA SFMTLLFCVK VKPNVAVLSR SDPSLVLAFL LCFAISTISF
SFMVSTFFSK ANMAAAFGGF LYFFTYIPYF FVAPRYNWMT LSQKLCSCLL SNVAMAMGAQ
LIGKFEAKGM GIQWRDLLSP VNVDDDFCFG QVLGMLLLDS VLYGLVTWYM EAVFPGQFGV
PQPWYFFIMP SYWCGKPRAV AGKEEEDSDP EKALRNEYFE AEPEDLVAGI KIKHLSKVFR
VGNKDRAAVR DLNLNLYEGQ ITVLLGHNGA GKTTTLSMLT GLFPPTSGRA YISGYEISQD
MVQIRKSLGL CPQHDILFDN LTVAEHLYFY AQLKGLSRQK CPEEVKQMLH IIGLEDKWNS
RSRFLSGGMR RKLSIGIALI AGSKVLILDE PTSGMDAISR RAIWDLLQRQ KSDRTIVLTT
HFMDEADLLG DRIAIMAKGE LQCCGSSLFL KQKYGAGYHM TLVKEPHCNP EDISQLVHHH
VPNATLESSA GAELSFILPR ESTHRFEGLF AKLEKKQKEL GIASFGASIT TMEEVFLRVG
KLVDSSMDIQ AIQLPALQYQ HERRASDWAV DSNLCGAMDP SDGIGALIEE ERTAVKLNTG
LALHCQQFWA MFLKKAAYSW REWKMVAAQV LVPLTCVTLA LLAINYSSEL FDDPMLRLTL
GEYGRTVVPF SVPGTSQLGQ QLSEHLKDAL QAEGQEPREV LGDLEEFLIF RASVEGGGFN
ERCLVAASFR DVGERTVVNA LFNNQAYHSP ATALAVVDNL LFKLLCGPHA SIVVSNFPQP
RSALQAAKDQ FNEGRKGFDI ALNLLFAMAF LASTFSILAV SERAVQAKHV QFVSGVHVAS
FWLSALLWDL ISFLIPSLLL LVVFKAFDVR AFTRDGHMAD TLLLLLLYGW AIIPLMYLMN
FFFLGAATAY TRLTIFNILS GIATFLMVTI MRIPAVKLEE LSKTLDHVFL VLPNHCLGMA
VSSFYENYET RRYCTSSEVA AHYCKKYNIQ YQENFYAWSA PGVGRFVASM AASGCAYLIL
LFLIETNLLQ RLRGILCALR RRRTLTELYT RMPVLPEDQD VADERTRILA PSPDSLLHTP
LIIKELSKVY EQRVPLLAVD RLSLAVQKGE CFGLLGFNGA GKTTTFKMLT GEESLTSGDA
FVGGHRISSD VGKVRQRIGY CPQFDALLDH MTGREMLVMY ARLRGIPERH IGACVENTLR
GLLLEPHANK LVRTYSGGNK RKLSTGIALI GEPAVIFLDE PSTGMDPVAR RLLWDTVARA
RESGKAIIIT SHSMEECEAL CTRLAIMVQG QFKCLGSPQH LKSKFGSGYS LRAKVQSEGQ
QEALEEFKAF VDLTFPGSVL EDEHQGMVHY HLPGRDLSWA KVFGILEKAK EKYGVDDYSV
SQISLEQVFL SFAHLQPPTA EEGR*

Position of stopcodon in wt / mu CDS

5115 / 5115

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

1705 / 1705

Position of stopcodon in wt / mu cDNA

5809 / 5809

Position of start ATG in wt / mu cDNA

695 / 695

Last intron/exon boundary

5677

Theoretical NMD boundary in CDS

4932

Length of CDS

5115

Coding sequence (CDS) position

875

cDNA position

1569

gDNA position

22984

Chromosomal position

2317763

Speed

0.23 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

16:2317763T>A_2_ENST00000382381

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Splice site changes

Model: simple_aae
Tree vote: 97|3 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr16:2317763T>A (GRCh38)

Gene symbol

ABCA3

Gene constraints

LOEUF: 0.61, LOF (oe): 0.51, misssense (oe): 0.92, synonymous (oe): 1.06 ? (gnomAD)

Ensembl transcript ID

ENST00000382381.7

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.875A>T
g.22984A>T

AA changes

AAE:	E292V	?
Score:	121

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs149989682
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	20	7276	7296

Protein conservation

Species	Match	AA	Alignment
Human		292	A	V	V	Q	E	K	E	R	R	L	K	E	Y	M	R	M	M	G	L	S	S	W	L	H
mutated	not conserved	292	A	V	V	Q	E	K	E	R	R	L	K	V	Y	M	R	M	M	G	L	S
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.872	1
	7.412	1
(flanking)	7.309	1

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor weakened	22982	wt: 9.88 / mu: 11.27	-	wt: ctctccccag\|GAGTACATGC mu: ctctccccag\|GTGTACATGC

Distance from splice site

2

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

16

Strand

-1

Original gDNA sequence snippet

TGATGGCTTCTCTCCCCAGGAGTACATGCGCATGATGGGGC

Altered gDNA sequence snippet

TGATGGCTTCTCTCCCCAGGTGTACATGCGCATGATGGGGC

Original cDNA sequence snippet

GAAGGAAAGGAGGCTGAAGGAGTACATGCGCATGATGGGGC

Altered cDNA sequence snippet

GAAGGAAAGGAGGCTGAAGGTGTACATGCGCATGATGGGGC

Wildtype AA sequence

MAVLRQLALL LWKNYTLQKR KVLVTVLELF LPLLFSGILI WLRLKIQSEN VPNATIYPGQ
SIQELPLFFT FPPPGDTWEL AYIPSHSDAA KTVTETVRRA LVINMRVRGF PSEKDFEDYI
RYDNCSSSVL AAVVFEHPFN HSKEPLPLAV KYHLRFSYTR RNYMWTQTGS FFLKETEGWH
TTSLFPLFPN PGPREPTSPD GGEPGYIREG FLAVQHAVDR AIMEYHADAA TRQLFQRLTV
TIKRFPYPPF IADPFLVAIQ YQLPLLLLLS FTYTALTIAR AVVQEKERRL KEYMRMMGLS
SWLHWSAWFL LFFLFLLIAA SFMTLLFCVK VKPNVAVLSR SDPSLVLAFL LCFAISTISF
SFMVSTFFSK GMGIQWRDLL SPVNVDDDFC FGQVLGMLLL DSVLYGLVTW YMEAVFPGQF
GVPQPWYFFI MPSYWCGKPR AVAGKEEEDS DPEKALRNEY FEAEPEDLVA GIKIKHLSKV
FRVGNKDRAA VRDLNLNLYE GQITVLLGHN GAGKTTTLSM LTGLFPPTSG RAYISGYEIS
QDMVQIRKSL GLCPQHDILF DNLTVAEHLY FYAQLKGLSR QKCPEEVKQM LHIIGLEDKW
NSRSRFLSGG MRRKLSIGIA LIAGSKVLIL DEPTSGMDAI SRRAIWDLLQ RQKSDRTIVL
TTHFMDEADL LGDRIAIMAK GELQCCGSSL FLKQKYGAGY HMTLVKEPHC NPEDISQLVH
HHVPNATLES SAGAELSFIL PRESTHRFEG LFAKLEKKQK ELGIASFGAS ITTMEEVFLR
VGKLVDSSMD IQAIQLPALQ YQHERRASDW AVDSNLCGAM DPSDGIGALI EEERTAVKLN
TGLALHCQQF WAMFLKKAAY SWREWKMVAA QVLVPLTCVT LALLAINYSS ELFDDPMLRL
TLGEYGRTVV PFSVPGTSQL GQQLSEHLKD ALQAEGQEPR EVLGDLEEFL IFRASVEGGG
FNERCLVAAS FRDVGERTVV NALFNNQAYH SPATALAVVD NLLFKLLCGP HASIVVSNFP
QPRSALQAAK DQFNEGRKGF DIALNLLFAM AFLASTFSIL AVSERAVQAK HVQFVSGVHV
ASFWLSALLW DLISFLIPSL LLLVVFKAFD VRAFTRDGHM ADTLLLLLLY GWAIIPLMYL
MNFFFLGAAT AYTRLTIFNI LSGIATFLMV TIMRIPAVKL EELSKTLDHV FLVLPNHCLG
MAVSSFYENY ETRRYCTSSE VAAHYCKKYN IQYQENFYAW SAPGVGRFVA SMAASGCAYL
ILLFLIETNL LQRLRGILCA LRRRRTLTEL YTRMPVLPED QDVADERTRI LAPSPDSLLH
TPLIIKELSK VYEQRVPLLA VDRLSLAVQK GECFGLLGFN GAGKTTTFKM LTGEESLTSG
DAFVGGHRIS SDVGKVRQRI GYCPQFDALL DHMTGREMLV MYARLRGIPE RHIGACVENT
LRGLLLEPHA NKLVRTYSGG NKRKLSTGIA LIGEPAVIFL DEPSTGMDPV ARRLLWDTVA
RARESGKAII ITSHSMEECE ALCTRLAIMV QGQFKCLGSP QHLKSKFGSG YSLRAKVQSE
GQQEALEEFK AFVDLTFPGS VLEDEHQGMV HYHLPGRDLS WAKVFGILEK AKEKYGVDDY
SVSQISLEQV FLSFAHLQPP TAEEGR*

Mutated AA sequence

MAVLRQLALL LWKNYTLQKR KVLVTVLELF LPLLFSGILI WLRLKIQSEN VPNATIYPGQ
SIQELPLFFT FPPPGDTWEL AYIPSHSDAA KTVTETVRRA LVINMRVRGF PSEKDFEDYI
RYDNCSSSVL AAVVFEHPFN HSKEPLPLAV KYHLRFSYTR RNYMWTQTGS FFLKETEGWH
TTSLFPLFPN PGPREPTSPD GGEPGYIREG FLAVQHAVDR AIMEYHADAA TRQLFQRLTV
TIKRFPYPPF IADPFLVAIQ YQLPLLLLLS FTYTALTIAR AVVQEKERRL KVYMRMMGLS
SWLHWSAWFL LFFLFLLIAA SFMTLLFCVK VKPNVAVLSR SDPSLVLAFL LCFAISTISF
SFMVSTFFSK GMGIQWRDLL SPVNVDDDFC FGQVLGMLLL DSVLYGLVTW YMEAVFPGQF
GVPQPWYFFI MPSYWCGKPR AVAGKEEEDS DPEKALRNEY FEAEPEDLVA GIKIKHLSKV
FRVGNKDRAA VRDLNLNLYE GQITVLLGHN GAGKTTTLSM LTGLFPPTSG RAYISGYEIS
QDMVQIRKSL GLCPQHDILF DNLTVAEHLY FYAQLKGLSR QKCPEEVKQM LHIIGLEDKW
NSRSRFLSGG MRRKLSIGIA LIAGSKVLIL DEPTSGMDAI SRRAIWDLLQ RQKSDRTIVL
TTHFMDEADL LGDRIAIMAK GELQCCGSSL FLKQKYGAGY HMTLVKEPHC NPEDISQLVH
HHVPNATLES SAGAELSFIL PRESTHRFEG LFAKLEKKQK ELGIASFGAS ITTMEEVFLR
VGKLVDSSMD IQAIQLPALQ YQHERRASDW AVDSNLCGAM DPSDGIGALI EEERTAVKLN
TGLALHCQQF WAMFLKKAAY SWREWKMVAA QVLVPLTCVT LALLAINYSS ELFDDPMLRL
TLGEYGRTVV PFSVPGTSQL GQQLSEHLKD ALQAEGQEPR EVLGDLEEFL IFRASVEGGG
FNERCLVAAS FRDVGERTVV NALFNNQAYH SPATALAVVD NLLFKLLCGP HASIVVSNFP
QPRSALQAAK DQFNEGRKGF DIALNLLFAM AFLASTFSIL AVSERAVQAK HVQFVSGVHV
ASFWLSALLW DLISFLIPSL LLLVVFKAFD VRAFTRDGHM ADTLLLLLLY GWAIIPLMYL
MNFFFLGAAT AYTRLTIFNI LSGIATFLMV TIMRIPAVKL EELSKTLDHV FLVLPNHCLG
MAVSSFYENY ETRRYCTSSE VAAHYCKKYN IQYQENFYAW SAPGVGRFVA SMAASGCAYL
ILLFLIETNL LQRLRGILCA LRRRRTLTEL YTRMPVLPED QDVADERTRI LAPSPDSLLH
TPLIIKELSK VYEQRVPLLA VDRLSLAVQK GECFGLLGFN GAGKTTTFKM LTGEESLTSG
DAFVGGHRIS SDVGKVRQRI GYCPQFDALL DHMTGREMLV MYARLRGIPE RHIGACVENT
LRGLLLEPHA NKLVRTYSGG NKRKLSTGIA LIGEPAVIFL DEPSTGMDPV ARRLLWDTVA
RARESGKAII ITSHSMEECE ALCTRLAIMV QGQFKCLGSP QHLKSKFGSG YSLRAKVQSE
GQQEALEEFK AFVDLTFPGS VLEDEHQGMV HYHLPGRDLS WAKVFGILEK AKEKYGVDDY
SVSQISLEQV FLSFAHLQPP TAEEGR*

Position of stopcodon in wt / mu CDS

4941 / 4941

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

1647 / 1647

Position of stopcodon in wt / mu cDNA

5653 / 5653

Position of start ATG in wt / mu cDNA

713 / 713

Last intron/exon boundary

5521

Theoretical NMD boundary in CDS

4758

Length of CDS

4941

Coding sequence (CDS) position

875

cDNA position

1587

gDNA position

22984

Chromosomal position

2317763

Speed

0.22 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table