Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2366471215;71216;71217 chr2:178575142;178575141;178575140chr2:179439869;179439868;179439867
N2AB2202366292;66293;66294 chr2:178575142;178575141;178575140chr2:179439869;179439868;179439867
N2A2109663511;63512;63513 chr2:178575142;178575141;178575140chr2:179439869;179439868;179439867
N2B1459944020;44021;44022 chr2:178575142;178575141;178575140chr2:179439869;179439868;179439867
Novex-11472444395;44396;44397 chr2:178575142;178575141;178575140chr2:179439869;179439868;179439867
Novex-21479144596;44597;44598 chr2:178575142;178575141;178575140chr2:179439869;179439868;179439867
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: T
  • RefSeq wild type transcript codon: ACA
  • RefSeq wild type template codon: TGT
  • Domain: Ig-130
  • Domain position: 28
  • Structural Position: 45
  • Q(SASA): 0.3932
  • 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
T/I rs774999533 0.096 0.051 N 0.17 0.202 0.29132392195 gnomAD-2.1.1 4.05E-06 None None None None I None 0 0 None 0 0 None 3.28E-05 None 0 0 0
T/I rs774999533 0.096 0.051 N 0.17 0.202 0.29132392195 gnomAD-4.0.0 2.73866E-06 None None None None I None 0 0 None 0 0 None 0 0 1.79962E-06 2.32105E-05 0

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
T/A 0.0625 likely_benign 0.064 benign -0.37 Destabilizing 0.454 N 0.257 neutral D 0.528960446 None None I
T/C 0.3206 likely_benign 0.3456 ambiguous -0.212 Destabilizing 0.998 D 0.359 neutral None None None None I
T/D 0.3062 likely_benign 0.3356 benign -0.045 Destabilizing 0.842 D 0.397 neutral None None None None I
T/E 0.217 likely_benign 0.2237 benign -0.099 Destabilizing 0.842 D 0.375 neutral None None None None I
T/F 0.1849 likely_benign 0.1978 benign -0.679 Destabilizing 0.949 D 0.456 neutral None None None None I
T/G 0.1936 likely_benign 0.2106 benign -0.55 Destabilizing 0.728 D 0.409 neutral None None None None I
T/H 0.1997 likely_benign 0.2131 benign -0.833 Destabilizing 0.998 D 0.419 neutral None None None None I
T/I 0.095 likely_benign 0.0981 benign -0.006 Destabilizing 0.051 N 0.17 neutral N 0.489201957 None None I
T/K 0.1617 likely_benign 0.1679 benign -0.558 Destabilizing 0.801 D 0.378 neutral N 0.473067091 None None I
T/L 0.076 likely_benign 0.0788 benign -0.006 Destabilizing 0.007 N 0.132 neutral None None None None I
T/M 0.0783 likely_benign 0.0814 benign 0.121 Stabilizing 0.949 D 0.391 neutral None None None None I
T/N 0.1052 likely_benign 0.1134 benign -0.29 Destabilizing 0.949 D 0.363 neutral None None None None I
T/P 0.3685 ambiguous 0.3967 ambiguous -0.097 Destabilizing 0.966 D 0.403 neutral N 0.507813191 None None I
T/Q 0.1684 likely_benign 0.1784 benign -0.487 Destabilizing 0.974 D 0.396 neutral None None None None I
T/R 0.1519 likely_benign 0.1598 benign -0.274 Destabilizing 0.934 D 0.399 neutral D 0.524381346 None None I
T/S 0.0865 likely_benign 0.0906 benign -0.478 Destabilizing 0.051 N 0.151 neutral N 0.506600875 None None I
T/V 0.0745 likely_benign 0.0782 benign -0.097 Destabilizing 0.029 N 0.095 neutral None None None None I
T/W 0.541 ambiguous 0.5733 pathogenic -0.702 Destabilizing 0.998 D 0.465 neutral None None None None I
T/Y 0.2401 likely_benign 0.2553 benign -0.445 Destabilizing 0.991 D 0.462 neutral 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.