Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16282 | 49069;49070;49071 | chr2:178614670;178614669;178614668 | chr2:179479397;179479396;179479395 |
| N2AB | 14641 | 44146;44147;44148 | chr2:178614670;178614669;178614668 | chr2:179479397;179479396;179479395 |
| N2A | 13714 | 41365;41366;41367 | chr2:178614670;178614669;178614668 | chr2:179479397;179479396;179479395 |
| N2B | 7217 | 21874;21875;21876 | chr2:178614670;178614669;178614668 | chr2:179479397;179479396;179479395 |
| Novex-1 | 7342 | 22249;22250;22251 | chr2:178614670;178614669;178614668 | chr2:179479397;179479396;179479395 |
| Novex-2 | 7409 | 22450;22451;22452 | chr2:178614670;178614669;178614668 | chr2:179479397;179479396;179479395 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs878854396  |
None | 0.78 | N | 0.639 | 0.508 | 0.656149315556 | gnomAD-4.0.0 | 1.59435E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86313E-06 | 0 | 0 |
| V/I | rs776265864 |
-0.583 | 0.06 | N | 0.215 | 0.134 | 0.356484672536 | gnomAD-2.1.1 | 5.02E-05 | None | None | None | None | I | None | 8.28E-05 | 0 | None | 0 | 4.17014E-04 | None | 0 | None | 0 | 3.14E-05 | 0 |
| V/I | rs776265864 |
-0.583 | 0.06 | N | 0.215 | 0.134 | 0.356484672536 | gnomAD-3.1.2 | 6.58E-05 | None | None | None | None | I | None | 2.42E-05 | 6.57E-05 | 0 | 0 | 9.758E-04 | None | 0 | 0 | 4.42E-05 | 0 | 0 |
| V/I | rs776265864 |
-0.583 | 0.06 | N | 0.215 | 0.134 | 0.356484672536 | gnomAD-4.0.0 | 4.59015E-05 | None | None | None | None | I | None | 5.34802E-05 | 1.67101E-05 | None | 0 | 2.01902E-04 | None | 0 | 1.64799E-04 | 4.9191E-05 | 0 | 1.60375E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.9233 | likely_pathogenic | 0.9074 | pathogenic | -0.823 | Destabilizing | 0.78 | D | 0.639 | neutral | N | 0.510612658 | None | None | I |
| V/C | 0.9637 | likely_pathogenic | 0.9591 | pathogenic | -0.73 | Destabilizing | 0.999 | D | 0.76 | deleterious | None | None | None | None | I |
| V/D | 0.999 | likely_pathogenic | 0.9986 | pathogenic | -0.217 | Destabilizing | 0.996 | D | 0.851 | deleterious | None | None | None | None | I |
| V/E | 0.9957 | likely_pathogenic | 0.9944 | pathogenic | -0.285 | Destabilizing | 0.995 | D | 0.843 | deleterious | D | 0.753626676 | None | None | I |
| V/F | 0.7679 | likely_pathogenic | 0.7274 | pathogenic | -0.813 | Destabilizing | 0.976 | D | 0.805 | deleterious | None | None | None | None | I |
| V/G | 0.9775 | likely_pathogenic | 0.9713 | pathogenic | -1.041 | Destabilizing | 0.995 | D | 0.836 | deleterious | D | 0.678602892 | None | None | I |
| V/H | 0.9969 | likely_pathogenic | 0.9959 | pathogenic | -0.645 | Destabilizing | 0.999 | D | 0.846 | deleterious | None | None | None | None | I |
| V/I | 0.0991 | likely_benign | 0.097 | benign | -0.372 | Destabilizing | 0.06 | N | 0.215 | neutral | N | 0.49472319 | None | None | I |
| V/K | 0.9943 | likely_pathogenic | 0.9927 | pathogenic | -0.636 | Destabilizing | 0.988 | D | 0.845 | deleterious | None | None | None | None | I |
| V/L | 0.7454 | likely_pathogenic | 0.7217 | pathogenic | -0.372 | Destabilizing | 0.663 | D | 0.475 | neutral | D | 0.537303819 | None | None | I |
| V/M | 0.7134 | likely_pathogenic | 0.6727 | pathogenic | -0.37 | Destabilizing | 0.976 | D | 0.692 | prob.neutral | None | None | None | None | I |
| V/N | 0.9952 | likely_pathogenic | 0.9939 | pathogenic | -0.349 | Destabilizing | 0.996 | D | 0.847 | deleterious | None | None | None | None | I |
| V/P | 0.9944 | likely_pathogenic | 0.9924 | pathogenic | -0.486 | Destabilizing | 0.996 | D | 0.848 | deleterious | None | None | None | None | I |
| V/Q | 0.9927 | likely_pathogenic | 0.9909 | pathogenic | -0.536 | Destabilizing | 0.996 | D | 0.845 | deleterious | None | None | None | None | I |
| V/R | 0.989 | likely_pathogenic | 0.9862 | pathogenic | -0.199 | Destabilizing | 0.996 | D | 0.85 | deleterious | None | None | None | None | I |
| V/S | 0.9827 | likely_pathogenic | 0.9779 | pathogenic | -0.839 | Destabilizing | 0.988 | D | 0.81 | deleterious | None | None | None | None | I |
| V/T | 0.9425 | likely_pathogenic | 0.9341 | pathogenic | -0.793 | Destabilizing | 0.919 | D | 0.683 | prob.neutral | None | None | None | None | I |
| V/W | 0.9966 | likely_pathogenic | 0.9947 | pathogenic | -0.92 | Destabilizing | 0.999 | D | 0.833 | deleterious | None | None | None | None | I |
| V/Y | 0.975 | likely_pathogenic | 0.9685 | pathogenic | -0.613 | Destabilizing | 0.996 | D | 0.787 | 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.