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Protein

Structural maintenance of chromosomes flexible hinge domain-containing protein 1

Gene

SMCHD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Required for maintenance of X inactivation in females and hypermethylation of CpG islands associated with inactive X. Involved in a pathway that mediates the methylation of a subset of CpG islands slowly and requires the methyltransferase DNMT3B (By similarity). Required for DUX4 silencing in somatic cells (PubMed:23143600).By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

  • chromosome organization Source: InterPro
  • inactivation of X chromosome by DNA methylation Source: Ensembl
  • nose development Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
Structural maintenance of chromosomes flexible hinge domain-containing protein 1
Alternative name(s):
SMC hinge domain-containing protein 1
Gene namesi
Name:SMCHD1
Synonyms:KIAA0650
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000101596.14.
HGNCiHGNC:29090. SMCHD1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome

Pathology & Biotechi

Involvement in diseasei

Facioscapulohumeral muscular dystrophy 2 (FSHD2)5 Publications
The disease is caused by mutations affecting the gene represented in this entry. SMCHD1 mutations lead to DUX4 expression in somatic tissues, including muscle cells, when an haplotype on chromosome 4 is permissive for DUX4 expression. Ectopic expression of DUX4 in skeletal muscle activates the expression of stem cell and germline genes, and, when overexpressed in somatic cells, DUX4 can ultimately lead to cell death (PubMed:23143600). FSHD2 and FSHD1 share a common pathophysiological pathway in which the FSHD2 gene SMCHD1 can act as a modifier for disease severity in families affected by FSHD1 (PubMed:24075187).
Disease descriptionA degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles.
See also OMIM:158901
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078877137G → E in BAMS and FSHD2; no change in protein abundance. 2 Publications1
Natural variantiVAR_078878138 – 2005Missing in FSHD2. 1 PublicationAdd BLAST1868
Natural variantiVAR_078882194L → F in FSHD2. 1 Publication1
Natural variantiVAR_078883195 – 2005Missing in FSHD2. 1 PublicationAdd BLAST1811
Natural variantiVAR_078885263H → D in FSHD2. 1 Publication1
Natural variantiVAR_078887344 – 2005Missing in FSHD2. 1 PublicationAdd BLAST1662
Natural variantiVAR_069067353Y → C in FSHD2; decreased protein level in fibroblasts as compared to wild-type protein; results in strongly decreased ATPase activity. 3 Publications1
Natural variantiVAR_078892425G → R in FSHD2. 2 Publications1
Natural variantiVAR_078893434 – 2005Missing in FSHD2. 1 PublicationAdd BLAST1572
Natural variantiVAR_069068479R → P in FSHD2; decreased protein level in fibroblasts as compared to wild-type protein. 2 Publications1
Natural variantiVAR_069069492C → R in FSHD2; decreased protein level in fibroblasts as compared to wild-type protein. 1 Publication1
Natural variantiVAR_078898527T → M in FSHD2; results in slightly decreased ATPase activity. 2 PublicationsCorresponds to variant dbSNP:rs397518422Ensembl.1
Natural variantiVAR_069070690P → S in FSHD2; decreased protein level in fibroblasts as compared to wild-type protein. 2 PublicationsCorresponds to variant dbSNP:rs397514623Ensembl.1
Natural variantiVAR_078900716G → S in FSHD2. 1 Publication1
Natural variantiVAR_078901731 – 2005Missing in FSHD2. 1 PublicationAdd BLAST1275
Natural variantiVAR_078902748L → P in FSHD2. 1 Publication1
Natural variantiVAR_078903780 – 2005Missing in FSHD2. 1 PublicationAdd BLAST1226
Natural variantiVAR_078904849D → N in FSHD2. 1 Publication1
Natural variantiVAR_069071868S → N in FSHD2; decreased protein level in fibroblasts as compared to wild-type protein. 2 Publications1
Natural variantiVAR_0789051176 – 1177TD → MH in FSHD2. 1 Publication2
Natural variantiVAR_0789061468M → I in FSHD2. 1 Publication1
Natural variantiVAR_0789071487 – 1488QP → HQ in FSHD2. 1 Publication2
Natural variantiVAR_0690721554F → S in FSHD2; decreased protein level in fibroblasts as compared to wild-type protein. 2 Publications1
Natural variantiVAR_0789081795 – 2005Missing in FSHD2. 1 PublicationAdd BLAST211
Natural variantiVAR_0789091868 – 2005Missing in FSHD2. 1 PublicationAdd BLAST138
Bosma arhinia microphthalmia syndrome (BAMS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant syndrome characterized by severe hypoplasia of the nose, palatal abnormalities, hypoplasia of the eyes, sensory abnormalities of taste and smell, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence.
See also OMIM:603457
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078869107L → P in BAMS; no change in protein abundance. 1 Publication1
Natural variantiVAR_078870129M → K in BAMS; no change in protein abundance. 1 Publication1
Natural variantiVAR_078871134A → S in BAMS; has an increased ATPase activity. 1 Publication1
Natural variantiVAR_078872135S → C in BAMS; has an increased ATPase activity; no change in protein abundance. 2 Publications1
Natural variantiVAR_078873135S → I in BAMS; no change in protein abundance. 1 Publication1
Natural variantiVAR_078874135S → N in BAMS; no change in protein abundance. 2 Publications1
Natural variantiVAR_078875136E → D in BAMS; no change in protein abundance. 1 Publication1
Natural variantiVAR_078876136E → G in BAMS; has an increased ATPase activity. 1 Publication1
Natural variantiVAR_078877137G → E in BAMS and FSHD2; no change in protein abundance. 2 Publications1
Natural variantiVAR_078879139N → H in BAMS; no change in protein abundance. 1 Publication1
Natural variantiVAR_078880141L → F in BAMS; no change in protein abundance. 1 Publication1
Natural variantiVAR_078881171F → V in BAMS; no change in protein abundance. 1 Publication1
Natural variantiVAR_078884242A → G in BAMS; no change in protein abundance. 1 Publication1
Natural variantiVAR_078886342W → S in BAMS. 1 Publication1
Natural variantiVAR_078888345Q → R in BAMS; no change in protein abundance. 1 Publication1
Natural variantiVAR_078889348H → R in BAMS; no change in protein abundance. 2 Publications1
Natural variantiVAR_078890400Q → L in BAMS; no change in protein abundance. 1 Publication1
Natural variantiVAR_078891420D → V in BAMS; unchanged ATPase activity; no change in protein abundance. 2 Publications1
Natural variantiVAR_078894473E → Q in BAMS; no change in protein abundance. 1 Publication1
Natural variantiVAR_078895518K → E in BAMS. 1 Publication1
Natural variantiVAR_078896523T → K in BAMS; no change in protein abundance. 1 Publication1
Natural variantiVAR_078897524N → S in BAMS; no change in protein abundance. 1 Publication1
Natural variantiVAR_078899552R → Q in BAMS; no change in protein abundance. 2 Publications1

Keywords - Diseasei

Disease mutation, Hypogonadotropic hypogonadism, Microphthalmia

Organism-specific databases

DisGeNETi23347.
MalaCardsiSMCHD1.
MIMi158901. phenotype.
603457. phenotype.
OpenTargetsiENSG00000101596.
Orphaneti269. Facioscapulohumeral dystrophy.
PharmGKBiPA128395776.

Polymorphism and mutation databases

BioMutaiSMCHD1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources1 Publication
ChainiPRO_00003321442 – 2005Structural maintenance of chromosomes flexible hinge domain-containing protein 1Add BLAST2004

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1 Publication1
Modified residuei1349N6-acetyllysineCombined sources1
Cross-linki1374Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1496Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1499PhosphothreonineCombined sources1
Modified residuei1802N6-succinyllysineBy similarity1
Modified residuei1974PhosphoserineCombined sources1

Post-translational modificationi

Sumoylated with SUMO1.By similarity

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiA6NHR9.
MaxQBiA6NHR9.
PaxDbiA6NHR9.
PRIDEiA6NHR9.

PTM databases

iPTMnetiA6NHR9.
PhosphoSitePlusiA6NHR9.

Expressioni

Gene expression databases

BgeeiENSG00000101596.
CleanExiHS_SMCHD1.
ExpressionAtlasiA6NHR9. baseline and differential.
GenevisibleiA6NHR9. HS.

Organism-specific databases

HPAiHPA039441.

Interactioni

Subunit structurei

Active as a monomer.By similarity

Protein-protein interaction databases

BioGridi116929. 36 interactors.
IntActiA6NHR9. 15 interactors.
MINTiMINT-5010096.
STRINGi9606.ENSP00000326603.

Structurei

3D structure databases

ProteinModelPortaliA6NHR9.
SMRiA6NHR9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni111 – 702ATPase activity domainBy similarityAdd BLAST592

Domaini

The ATPase activity domain is probably necessary for its engagement with chromatin (By similarity).By similarity

Phylogenomic databases

eggNOGiENOG410IISP. Eukaryota.
ENOG410XRY2. LUCA.
GeneTreeiENSGT00390000006950.
HOGENOMiHOG000007754.
HOVERGENiHBG108493.
InParanoidiA6NHR9.
OMAiLMILPDP.
OrthoDBiEOG091G05DG.
PhylomeDBiA6NHR9.
TreeFamiTF329426.

Family and domain databases

CDDicd00075. HATPase_c. 1 hit.
Gene3Di2.60.40.10. 1 hit.
3.30.565.10. 1 hit.
InterProiView protein in InterPro
IPR003594. HATPase_C.
IPR036890. HATPase_C_sf.
IPR013783. Ig-like_fold.
IPR010935. SMC_hinge.
IPR036277. SMC_hinge_sf.
PfamiView protein in Pfam
PF06470. SMC_hinge. 1 hit.
SMARTiView protein in SMART
SM00968. SMC_hinge. 1 hit.
SUPFAMiSSF55874. SSF55874. 1 hit.
SSF75553. SSF75553. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: A6NHR9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAAADGGGPG GASVGTEEDG GGVGHRTVYL FDRREKESEL GDRPLQVGER
60 70 80 90 100
SDYAGFRACV CQTLGISPEE KFVITTTSRK EITCDNFDET VKDGVTLYLL
110 120 130 140 150
QSVNQLLLTA TKERIDFLPH YDTLVKSGMY EYYASEGQNP LPFALAELID
160 170 180 190 200
NSLSATSRNI GVRRIQIKLL FDETQGKPAV AVIDNGRGMT SKQLNNWAVY
210 220 230 240 250
RLSKFTRQGD FESDHSGYVR PVPVPRSLNS DISYFGVGGK QAVFFVGQSA
260 270 280 290 300
RMISKPADSQ DVHELVLSKE DFEKKEKNKE AIYSGYIRNR KPSDSVHITN
310 320 330 340 350
DDERFLHHLI IEEKEKDSFT AVVITGVQPE HIQYLKNYFH LWTRQLAHIY
360 370 380 390 400
HYYIHGPKGN EIRTSKEVEP FNNIDIEISM FEKGKVPKIV NLREIQDDMQ
410 420 430 440 450
TLYVNTAADS FEFKAHVEGD GVVEGIIRYH PFLYDRETYP DDPCFPSKLK
460 470 480 490 500
DEDDEDDCFI LEKAARGKRP IFECFWNGRL IPYTSVEDFD WCTPPKKRGL
510 520 530 540 550
APIECYNRIS GALFTNDKFQ VSTNKLTFMD LELKLKDKNT LFTRILNGQE
560 570 580 590 600
QRMKIDREFA LWLKDCHEKY DKQIKFTLFK GVITRPDLPS KKQGPWATYA
610 620 630 640 650
AIEWDGKIYK AGQLVKTIKT LPLFYGSIVR FFLYGDHDGE VYATGGEVQI
660 670 680 690 700
AMEPQALYDE VRTVPIAKLD RTVAEKAVKK YVEDEMARLP DRLSVTWPEG
710 720 730 740 750
DELLPNEVRP AGTPIGALRI EILNKKGEAM QKLPGTSHGG SKKLLVELKV
760 770 780 790 800
ILHSSSGNKE IISHISQHGG KWPYWFKKME NIQKLGNYTL KLQVVLNESN
810 820 830 840 850
ADTYAGRPLP SKAIKFSVKE GKPEKFSFGL LDLPFRVGVP FNIPLEFQDE
860 870 880 890 900
FGHTSQLVTD IQPVLEASGL SLHYEEITKG PNCVIRGVTA KGPVNSCQGK
910 920 930 940 950
NYNLKVTLPG LKEDSQILKI RLLPGHPRRL KVKPDSEILV IENGTAFPFQ
960 970 980 990 1000
VEVLDESDNI TAQPKLIVHC KFSGAPNLPV YVVDCSSSGT SILTGSAIQV
1010 1020 1030 1040 1050
QNIKKDQTLK ARIEIPSCKD VAPVEKTIKL LPSSHVARLQ IFSVEGQKAI
1060 1070 1080 1090 1100
QIKHQDEVNW IAGDIMHNLI FQMYDEGERE INITSALAEK IKVNWTPEIN
1110 1120 1130 1140 1150
KEHLLQGLLP DVQVPTSVKD MRYCQVSFQD DHVSLESAFT VRPLPDEPKH
1160 1170 1180 1190 1200
LKCEMKGGKT VQMGQELQGE VVIIITDQYG NQIQAFSPSS LSSLSIAGVG
1210 1220 1230 1240 1250
LDSSNLKTTF QENTQSISVR GIKFIPGPPG NKDLCFTWRE FSDFIRVQLI
1260 1270 1280 1290 1300
SGPPAKLLLI DWPELKESIP VINGRDLQNP IIVQLCDQWD NPAPVQHVKI
1310 1320 1330 1340 1350
SLTKASNLKL MPSNQQHKTD EKGRANLGVF SVFAPRGEHT LQVKAIYNKS
1360 1370 1380 1390 1400
IIEGPIIKLM ILPDPEKPVR LNVKYDKDAS FLAGGLFTDF MISVISEDDS
1410 1420 1430 1440 1450
IIKNINPARI SMKMWKLSTS GNRPPANAET FSCNKIKDND KEDGCFYFRD
1460 1470 1480 1490 1500
KVIPNKVGTY CIQFGFMMDK TNILNSEQVI VEVLPNQPVK LVPKIKPPTP
1510 1520 1530 1540 1550
AVSNVRSVAS RTLVRDLHLS ITDDYDNHTG IDLVGTIIAT IKGSNEEDTD
1560 1570 1580 1590 1600
TPLFIGKVRT LEFPFVNGSA EIMSLVLAES SPGRDSTEYF IVFEPRLPLL
1610 1620 1630 1640 1650
SRTLEPYILP FMFYNDVKKQ QQMAALTKEK DQLSQSIVMY KSLFEASQQL
1660 1670 1680 1690 1700
LNEMKCQVEE ARLKEAQLRN ELKIHNIDIP TTQQVPHIEA LLKRKLSEQE
1710 1720 1730 1740 1750
ELKKKPRRSC TLPNYTKGSG DVLGKIAHLA QIEDDRAAMV ISWHLASDMD
1760 1770 1780 1790 1800
CVVTLTTDAA RRIYDETQGR QQVLPLDSIY KKTLPDWKRS LPHFRNGKLY
1810 1820 1830 1840 1850
FKPIGDPVFA RDLLTFPDNV EHCETVFGML LGDTIILDNL DAANHYRKEV
1860 1870 1880 1890 1900
VKITHCPTLL TRDGDRIRSN GKFGGLQNKA PPMDKLRGMV FGAPVPKQCL
1910 1920 1930 1940 1950
ILGEQIDLLQ QYRSAVCKLD SVNKDLNSQL EYLRTPDMRK KKQELDEHEK
1960 1970 1980 1990 2000
NLKLIEEKLG MTPIRKCNDS LRHSPKVETT DCPVPPKRMR REATRQNRII

TKTDV
Length:2,005
Mass (Da):226,374
Last modified:April 29, 2008 - v2
Checksum:iB662C681424241B7
GO
Isoform 2 (identifier: A6NHR9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1907-1917: DLLQQYRSAVC → VHACVPSYSGG
     1918-2005: Missing.

Note: No experimental confirmation available.
Show »
Length:1,917
Mass (Da):215,745
Checksum:i1E16E802BA6F7FD7
GO
Isoform 3 (identifier: A6NHR9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1065: Missing.
     1826-1827: VF → GC
     1828-2005: Missing.

Note: No experimental confirmation available.
Show »
Length:762
Mass (Da):85,965
Checksum:i3FD613313D84C89A
GO

Sequence cautioni

The sequence BAB15202 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BC035774 differs from that shown. Reason: Frameshift at position 1730.Curated
The sequence CAH10538 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1278Q → E in CAB45732 (PubMed:17974005).Curated1
Sequence conflicti1384G → E in CAH10538 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078869107L → P in BAMS; no change in protein abundance. 1 Publication1
Natural variantiVAR_078870129M → K in BAMS; no change in protein abundance. 1 Publication1
Natural variantiVAR_078871134A → S in BAMS; has an increased ATPase activity. 1 Publication1
Natural variantiVAR_078872135S → C in BAMS; has an increased ATPase activity; no change in protein abundance. 2 Publications1
Natural variantiVAR_078873135S → I in BAMS; no change in protein abundance. 1 Publication1
Natural variantiVAR_078874135S → N in BAMS; no change in protein abundance. 2 Publications1
Natural variantiVAR_078875136E → D in BAMS; no change in protein abundance. 1 Publication1
Natural variantiVAR_078876136E → G in BAMS; has an increased ATPase activity. 1 Publication1
Natural variantiVAR_078877137G → E in BAMS and FSHD2; no change in protein abundance. 2 Publications1
Natural variantiVAR_078878138 – 2005Missing in FSHD2. 1 PublicationAdd BLAST1868
Natural variantiVAR_078879139N → H in BAMS; no change in protein abundance. 1 Publication1
Natural variantiVAR_078880141L → F in BAMS; no change in protein abundance. 1 Publication1
Natural variantiVAR_078881171F → V in BAMS; no change in protein abundance. 1 Publication1
Natural variantiVAR_078882194L → F in FSHD2. 1 Publication1
Natural variantiVAR_078883195 – 2005Missing in FSHD2. 1 PublicationAdd BLAST1811
Natural variantiVAR_078884242A → G in BAMS; no change in protein abundance. 1 Publication1
Natural variantiVAR_078885263H → D in FSHD2. 1 Publication1
Natural variantiVAR_078886342W → S in BAMS. 1 Publication1
Natural variantiVAR_078887344 – 2005Missing in FSHD2. 1 PublicationAdd BLAST1662
Natural variantiVAR_078888345Q → R in BAMS; no change in protein abundance. 1 Publication1
Natural variantiVAR_078889348H → R in BAMS; no change in protein abundance. 2 Publications1
Natural variantiVAR_069067353Y → C in FSHD2; decreased protein level in fibroblasts as compared to wild-type protein; results in strongly decreased ATPase activity. 3 Publications1
Natural variantiVAR_078890400Q → L in BAMS; no change in protein abundance. 1 Publication1
Natural variantiVAR_078891420D → V in BAMS; unchanged ATPase activity; no change in protein abundance. 2 Publications1
Natural variantiVAR_078892425G → R in FSHD2. 2 Publications1
Natural variantiVAR_078893434 – 2005Missing in FSHD2. 1 PublicationAdd BLAST1572
Natural variantiVAR_078894473E → Q in BAMS; no change in protein abundance. 1 Publication1
Natural variantiVAR_069068479R → P in FSHD2; decreased protein level in fibroblasts as compared to wild-type protein. 2 Publications1
Natural variantiVAR_069069492C → R in FSHD2; decreased protein level in fibroblasts as compared to wild-type protein. 1 Publication1
Natural variantiVAR_078895518K → E in BAMS. 1 Publication1
Natural variantiVAR_078896523T → K in BAMS; no change in protein abundance. 1 Publication1
Natural variantiVAR_078897524N → S in BAMS; no change in protein abundance. 1 Publication1
Natural variantiVAR_078898527T → M in FSHD2; results in slightly decreased ATPase activity. 2 PublicationsCorresponds to variant dbSNP:rs397518422Ensembl.1
Natural variantiVAR_078899552R → Q in BAMS; no change in protein abundance. 2 Publications1
Natural variantiVAR_069070690P → S in FSHD2; decreased protein level in fibroblasts as compared to wild-type protein. 2 PublicationsCorresponds to variant dbSNP:rs397514623Ensembl.1
Natural variantiVAR_042959708V → I. Corresponds to variant dbSNP:rs2276092Ensembl.1
Natural variantiVAR_078900716G → S in FSHD2. 1 Publication1
Natural variantiVAR_078901731 – 2005Missing in FSHD2. 1 PublicationAdd BLAST1275
Natural variantiVAR_078902748L → P in FSHD2. 1 Publication1
Natural variantiVAR_078903780 – 2005Missing in FSHD2. 1 PublicationAdd BLAST1226
Natural variantiVAR_078904849D → N in FSHD2. 1 Publication1
Natural variantiVAR_069071868S → N in FSHD2; decreased protein level in fibroblasts as compared to wild-type protein. 2 Publications1
Natural variantiVAR_042960879K → N. Corresponds to variant dbSNP:rs633422Ensembl.1
Natural variantiVAR_051365960I → V. Corresponds to variant dbSNP:rs9961682Ensembl.1
Natural variantiVAR_0789051176 – 1177TD → MH in FSHD2. 1 Publication2
Natural variantiVAR_0789061468M → I in FSHD2. 1 Publication1
Natural variantiVAR_0789071487 – 1488QP → HQ in FSHD2. 1 Publication2
Natural variantiVAR_0690721554F → S in FSHD2; decreased protein level in fibroblasts as compared to wild-type protein. 2 Publications1
Natural variantiVAR_0789081795 – 2005Missing in FSHD2. 1 PublicationAdd BLAST211
Natural variantiVAR_0789091868 – 2005Missing in FSHD2. 1 PublicationAdd BLAST138

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0333441 – 1065Missing in isoform 3. 1 PublicationAdd BLAST1065
Alternative sequenceiVSP_0333451826 – 1827VF → GC in isoform 3. 1 Publication2
Alternative sequenceiVSP_0333461828 – 2005Missing in isoform 3. 1 Publication