Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2541676471;76472;76473 chr2:178569886;178569885;178569884chr2:179434613;179434612;179434611
N2AB2377571548;71549;71550 chr2:178569886;178569885;178569884chr2:179434613;179434612;179434611
N2A2284868767;68768;68769 chr2:178569886;178569885;178569884chr2:179434613;179434612;179434611
N2B1635149276;49277;49278 chr2:178569886;178569885;178569884chr2:179434613;179434612;179434611
Novex-11647649651;49652;49653 chr2:178569886;178569885;178569884chr2:179434613;179434612;179434611
Novex-21654349852;49853;49854 chr2:178569886;178569885;178569884chr2:179434613;179434612;179434611
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: D
  • RefSeq wild type transcript codon: GAC
  • RefSeq wild type template codon: CTG
  • Domain: Fn3-73
  • Domain position: 12
  • Structural Position: 14
  • Q(SASA): 0.2884
  • Predicted PPI site: N

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
D/E rs781781445 0.063 0.978 N 0.419 0.303 0.225902525712 gnomAD-2.1.1 7.15E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.57E-05 0
D/E rs781781445 0.063 0.978 N 0.419 0.303 0.225902525712 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 0 None 0 0 2.94E-05 0 0
D/E rs781781445 0.063 0.978 N 0.419 0.303 0.225902525712 gnomAD-4.0.0 4.95884E-06 None None None None N None 0 0 None 0 0 None 0 0 5.93412E-06 0 1.60174E-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
D/A 0.7594 likely_pathogenic 0.7247 pathogenic -0.179 Destabilizing 0.989 D 0.601 neutral N 0.469215964 None None N
D/C 0.9662 likely_pathogenic 0.9589 pathogenic -0.164 Destabilizing 1.0 D 0.709 prob.delet. None None None None N
D/E 0.659 likely_pathogenic 0.6341 pathogenic -0.29 Destabilizing 0.978 D 0.419 neutral N 0.506261653 None None N
D/F 0.973 likely_pathogenic 0.9648 pathogenic 0.388 Stabilizing 0.99 D 0.75 deleterious None None None None N
D/G 0.6056 likely_pathogenic 0.5753 pathogenic -0.478 Destabilizing 0.978 D 0.569 neutral N 0.485207079 None None N
D/H 0.8729 likely_pathogenic 0.8297 pathogenic 0.585 Stabilizing 0.994 D 0.699 prob.neutral N 0.501224646 None None N
D/I 0.9694 likely_pathogenic 0.9611 pathogenic 0.59 Stabilizing 0.998 D 0.748 deleterious None None None None N
D/K 0.9427 likely_pathogenic 0.9317 pathogenic 0.278 Stabilizing 0.995 D 0.663 neutral None None None None N
D/L 0.9429 likely_pathogenic 0.9284 pathogenic 0.59 Stabilizing 0.995 D 0.739 prob.delet. None None None None N
D/M 0.9792 likely_pathogenic 0.9721 pathogenic 0.586 Stabilizing 1.0 D 0.696 prob.neutral None None None None N
D/N 0.3374 likely_benign 0.2824 benign -0.451 Destabilizing 0.576 D 0.189 neutral D 0.523655335 None None N
D/P 0.9955 likely_pathogenic 0.9932 pathogenic 0.358 Stabilizing 0.999 D 0.716 prob.delet. None None None None N
D/Q 0.9117 likely_pathogenic 0.8914 pathogenic -0.3 Destabilizing 0.998 D 0.615 neutral None None None None N
D/R 0.9322 likely_pathogenic 0.9206 pathogenic 0.597 Stabilizing 0.998 D 0.703 prob.neutral None None None None N
D/S 0.4783 ambiguous 0.4256 ambiguous -0.555 Destabilizing 0.983 D 0.468 neutral None None None None N
D/T 0.8389 likely_pathogenic 0.8077 pathogenic -0.291 Destabilizing 0.995 D 0.651 neutral None None None None N
D/V 0.912 likely_pathogenic 0.8926 pathogenic 0.358 Stabilizing 0.994 D 0.745 deleterious N 0.493209249 None None N
D/W 0.9941 likely_pathogenic 0.9916 pathogenic 0.621 Stabilizing 0.999 D 0.707 prob.neutral None None None None N
D/Y 0.8415 likely_pathogenic 0.8063 pathogenic 0.667 Stabilizing 0.576 D 0.419 neutral N 0.496451706 None None N

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.