Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2010460535;60536;60537 chr2:178591415;178591414;178591413chr2:179456142;179456141;179456140
N2AB1846355612;55613;55614 chr2:178591415;178591414;178591413chr2:179456142;179456141;179456140
N2A1753652831;52832;52833 chr2:178591415;178591414;178591413chr2:179456142;179456141;179456140
N2B1103933340;33341;33342 chr2:178591415;178591414;178591413chr2:179456142;179456141;179456140
Novex-11116433715;33716;33717 chr2:178591415;178591414;178591413chr2:179456142;179456141;179456140
Novex-21123133916;33917;33918 chr2:178591415;178591414;178591413chr2:179456142;179456141;179456140
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: G
  • RefSeq wild type transcript codon: GGT
  • RefSeq wild type template codon: CCA
  • Domain: Ig-120
  • Domain position: 25
  • Structural Position: 40
  • Q(SASA): 0.2497
  • Predicted PPI site: I

Reported SAVs

SNV RS
DUET
PolyPhen-2
Condel
Rhapsody
REVEL
MVP
Source
MAF
Disease
Zygosity
Site annotation
mCSM PPI
Predicted PPI site
Comments
AFR
AMR
AMS
ASJ
EAS
EUR
FIN
MDE
NFE
SAS
OTH
G/S rs747671998 -0.895 1.0 D 0.841 0.649 0.640061320974 gnomAD-2.1.1 4.09E-06 None None None None I None 0 0 None 0 0 None 3.4E-05 None 0 0 0
G/S rs747671998 -0.895 1.0 D 0.841 0.649 0.640061320974 gnomAD-4.0.0 1.3727E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.17272E-05 1.66218E-05

Saturation Mutagenesis

SAV
AlphaMissense (IC)
AlphaMissense Class (IC)
AlphaMissense (N2AB)
AlphaMissense Class (N2AB)
mCSM
mCSM class
PolyPhen-2
PolyPhen-2 Class
Rhapsody
Rhapsody Class
Condel
Condel Score
Site annotation
mCSM PPI
Predicted PPI site
G/A 0.8306 likely_pathogenic 0.9236 pathogenic -0.33 Destabilizing 1.0 D 0.773 deleterious D 0.565554434 None None I
G/C 0.9807 likely_pathogenic 0.9911 pathogenic -0.874 Destabilizing 1.0 D 0.727 prob.delet. D 0.648133611 None None I
G/D 0.9953 likely_pathogenic 0.9968 pathogenic -0.899 Destabilizing 1.0 D 0.863 deleterious D 0.63067126 None None I
G/E 0.9973 likely_pathogenic 0.9985 pathogenic -1.032 Destabilizing 1.0 D 0.837 deleterious None None None None I
G/F 0.9985 likely_pathogenic 0.9991 pathogenic -0.931 Destabilizing 1.0 D 0.789 deleterious None None None None I
G/H 0.9993 likely_pathogenic 0.9997 pathogenic -0.612 Destabilizing 1.0 D 0.731 prob.delet. None None None None I
G/I 0.9973 likely_pathogenic 0.9986 pathogenic -0.371 Destabilizing 1.0 D 0.795 deleterious None None None None I
G/K 0.9993 likely_pathogenic 0.9995 pathogenic -1.079 Destabilizing 1.0 D 0.837 deleterious None None None None I
G/L 0.9974 likely_pathogenic 0.9987 pathogenic -0.371 Destabilizing 1.0 D 0.803 deleterious None None None None I
G/M 0.9984 likely_pathogenic 0.9992 pathogenic -0.543 Destabilizing 1.0 D 0.723 prob.delet. None None None None I
G/N 0.9979 likely_pathogenic 0.9988 pathogenic -0.714 Destabilizing 1.0 D 0.847 deleterious None None None None I
G/P 0.9996 likely_pathogenic 0.9998 pathogenic -0.323 Destabilizing 1.0 D 0.832 deleterious None None None None I
G/Q 0.9986 likely_pathogenic 0.9993 pathogenic -0.968 Destabilizing 1.0 D 0.829 deleterious None None None None I
G/R 0.9971 likely_pathogenic 0.9984 pathogenic -0.61 Destabilizing 1.0 D 0.835 deleterious D 0.647730003 None None I
G/S 0.9293 likely_pathogenic 0.9702 pathogenic -0.814 Destabilizing 1.0 D 0.841 deleterious D 0.574224889 None None I
G/T 0.9911 likely_pathogenic 0.9959 pathogenic -0.882 Destabilizing 1.0 D 0.835 deleterious None None None None I
G/V 0.9921 likely_pathogenic 0.9961 pathogenic -0.323 Destabilizing 1.0 D 0.801 deleterious D 0.631478477 None None I
G/W 0.9977 likely_pathogenic 0.9986 pathogenic -1.146 Destabilizing 1.0 D 0.731 prob.delet. None None None None I
G/Y 0.9982 likely_pathogenic 0.999 pathogenic -0.794 Destabilizing 1.0 D 0.781 deleterious None None None None I

Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.