Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31519 | 94780;94781;94782 | chr2:178546873;178546872;178546871 | chr2:179411600;179411599;179411598 |
| N2AB | 29878 | 89857;89858;89859 | chr2:178546873;178546872;178546871 | chr2:179411600;179411599;179411598 |
| N2A | 28951 | 87076;87077;87078 | chr2:178546873;178546872;178546871 | chr2:179411600;179411599;179411598 |
| N2B | 22454 | 67585;67586;67587 | chr2:178546873;178546872;178546871 | chr2:179411600;179411599;179411598 |
| Novex-1 | 22579 | 67960;67961;67962 | chr2:178546873;178546872;178546871 | chr2:179411600;179411599;179411598 |
| Novex-2 | 22646 | 68161;68162;68163 | chr2:178546873;178546872;178546871 | chr2:179411600;179411599;179411598 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/K | rs554140295  |
-0.707 | 0.999 | N | 0.715 | 0.425 | 0.464612977235 | gnomAD-2.1.1 | 4.21E-06 | None | None | None | None | N | None | 6.5E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/K | rs554140295 |
-0.707 | 0.999 | N | 0.715 | 0.425 | 0.464612977235 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/K | rs554140295 |
-0.707 | 0.999 | N | 0.715 | 0.425 | 0.464612977235 | gnomAD-4.0.0 | 1.88002E-06 | None | None | None | None | N | None | 2.68147E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.56412E-07 | 0 | 0 |
| T/R | rs554140295 |
-0.284 | 0.999 | N | 0.775 | 0.409 | 0.526385394563 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
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 | 0.4985 | ambiguous | 0.4819 | ambiguous | -0.603 | Destabilizing | 0.998 | D | 0.499 | neutral | N | 0.495201167 | None | None | N |
| T/C | 0.8407 | likely_pathogenic | 0.834 | pathogenic | -0.493 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| T/D | 0.8627 | likely_pathogenic | 0.8657 | pathogenic | -1.088 | Destabilizing | 0.998 | D | 0.718 | prob.delet. | None | None | None | None | N |
| T/E | 0.9192 | likely_pathogenic | 0.9222 | pathogenic | -1.1 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | None | None | None | None | N |
| T/F | 0.9135 | likely_pathogenic | 0.91 | pathogenic | -0.861 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| T/G | 0.4047 | ambiguous | 0.3658 | ambiguous | -0.832 | Destabilizing | 0.997 | D | 0.669 | neutral | None | None | None | None | N |
| T/H | 0.7532 | likely_pathogenic | 0.7566 | pathogenic | -1.259 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| T/I | 0.9625 | likely_pathogenic | 0.9621 | pathogenic | -0.088 | Destabilizing | 1.0 | D | 0.774 | deleterious | D | 0.52296666 | None | None | N |
| T/K | 0.7767 | likely_pathogenic | 0.7729 | pathogenic | -0.755 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | N | 0.489351816 | None | None | N |
| T/L | 0.6413 | likely_pathogenic | 0.6357 | pathogenic | -0.088 | Destabilizing | 0.998 | D | 0.669 | neutral | None | None | None | None | N |
| T/M | 0.4678 | ambiguous | 0.4663 | ambiguous | 0.359 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| T/N | 0.3773 | ambiguous | 0.4146 | ambiguous | -0.83 | Destabilizing | 0.91 | D | 0.306 | neutral | None | None | None | None | N |
| T/P | 0.9376 | likely_pathogenic | 0.9428 | pathogenic | -0.228 | Destabilizing | 1.0 | D | 0.764 | deleterious | D | 0.527575016 | None | None | N |
| T/Q | 0.7158 | likely_pathogenic | 0.7133 | pathogenic | -1.118 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| T/R | 0.7629 | likely_pathogenic | 0.7629 | pathogenic | -0.438 | Destabilizing | 0.999 | D | 0.775 | deleterious | N | 0.483907313 | None | None | N |
| T/S | 0.1646 | likely_benign | 0.1523 | benign | -0.935 | Destabilizing | 0.996 | D | 0.491 | neutral | N | 0.489390833 | None | None | N |
| T/V | 0.8942 | likely_pathogenic | 0.8916 | pathogenic | -0.228 | Destabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| T/W | 0.9734 | likely_pathogenic | 0.9718 | pathogenic | -0.857 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| T/Y | 0.8913 | likely_pathogenic | 0.8909 | pathogenic | -0.562 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | 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.