Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8319 | 25180;25181;25182 | chr2:178718051;178718050;178718049 | chr2:179582778;179582777;179582776 |
| N2AB | 8002 | 24229;24230;24231 | chr2:178718051;178718050;178718049 | chr2:179582778;179582777;179582776 |
| N2A | 7075 | 21448;21449;21450 | chr2:178718051;178718050;178718049 | chr2:179582778;179582777;179582776 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | None | None | 0.982 | N | 0.503 | 0.426 | 0.479056812784 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-06 | 0 | 0 |
| A/T | rs2077763797  |
None | 1.0 | D | 0.685 | 0.375 | 0.463157528383 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| A/T | rs2077763797 |
None | 1.0 | D | 0.685 | 0.375 | 0.463157528383 | gnomAD-4.0.0 | 6.57263E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| A/V | None | None | 0.998 | N | 0.679 | 0.377 | 0.649000688064 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7442 | likely_pathogenic | 0.7858 | pathogenic | -0.675 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| A/D | 0.9949 | likely_pathogenic | 0.9967 | pathogenic | -1.806 | Destabilizing | 1.0 | D | 0.775 | deleterious | N | 0.495215891 | None | None | N |
| A/E | 0.9913 | likely_pathogenic | 0.9936 | pathogenic | -1.613 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| A/F | 0.8465 | likely_pathogenic | 0.8855 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| A/G | 0.3699 | ambiguous | 0.4301 | ambiguous | -1.247 | Destabilizing | 0.979 | D | 0.679 | prob.neutral | N | 0.480169209 | None | None | N |
| A/H | 0.9837 | likely_pathogenic | 0.9871 | pathogenic | -1.79 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| A/I | 0.8029 | likely_pathogenic | 0.8737 | pathogenic | 0.498 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| A/K | 0.9968 | likely_pathogenic | 0.9975 | pathogenic | -0.808 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| A/L | 0.7007 | likely_pathogenic | 0.768 | pathogenic | 0.498 | Stabilizing | 0.789 | D | 0.525 | neutral | None | None | None | None | N |
| A/M | 0.8432 | likely_pathogenic | 0.9009 | pathogenic | 0.284 | Stabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| A/N | 0.984 | likely_pathogenic | 0.9897 | pathogenic | -1.046 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| A/P | 0.9814 | likely_pathogenic | 0.9866 | pathogenic | 0.12 | Stabilizing | 0.982 | D | 0.503 | neutral | N | 0.4998507 | None | None | N |
| A/Q | 0.9786 | likely_pathogenic | 0.9831 | pathogenic | -0.848 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| A/R | 0.987 | likely_pathogenic | 0.9875 | pathogenic | -0.993 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| A/S | 0.4117 | ambiguous | 0.4792 | ambiguous | -1.469 | Destabilizing | 0.999 | D | 0.679 | prob.neutral | N | 0.497117387 | None | None | N |
| A/T | 0.609 | likely_pathogenic | 0.7126 | pathogenic | -1.146 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | D | 0.524034629 | None | None | N |
| A/V | 0.5089 | ambiguous | 0.6257 | pathogenic | 0.12 | Stabilizing | 0.998 | D | 0.679 | prob.neutral | N | 0.491999887 | None | None | N |
| A/W | 0.9895 | likely_pathogenic | 0.9923 | pathogenic | -1.31 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| A/Y | 0.9488 | likely_pathogenic | 0.9618 | pathogenic | -0.678 | Destabilizing | 1.0 | D | 0.764 | 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.