Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7406 | 22441;22442;22443 | chr2:178722683;178722682;178722681 | chr2:179587410;179587409;179587408 |
| N2AB | 7089 | 21490;21491;21492 | chr2:178722683;178722682;178722681 | chr2:179587410;179587409;179587408 |
| N2A | 6162 | 18709;18710;18711 | chr2:178722683;178722682;178722681 | chr2:179587410;179587409;179587408 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs2078615661  |
None | 0.999 | N | 0.773 | 0.44 | 0.736902561017 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs2078615661 |
None | 0.999 | N | 0.773 | 0.44 | 0.736902561017 | gnomAD-4.0.0 | 6.57402E-06 | None | None | None | None | N | None | 0 | 6.54793E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/P | rs371525576 |
None | 0.997 | D | 0.76 | 0.563 | None | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| S/P | rs371525576 |
None | 0.997 | D | 0.76 | 0.563 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| S/P | rs371525576 |
None | 0.997 | D | 0.76 | 0.563 | None | gnomAD-4.0.0 | 5.13246E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.58722E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0945 | likely_benign | 0.121 | benign | -0.913 | Destabilizing | 0.419 | N | 0.633 | neutral | N | 0.497173315 | None | None | N |
| S/C | 0.1208 | likely_benign | 0.1595 | benign | -0.519 | Destabilizing | 1.0 | D | 0.74 | deleterious | N | 0.489076694 | None | None | N |
| S/D | 0.7967 | likely_pathogenic | 0.8995 | pathogenic | -0.55 | Destabilizing | 0.984 | D | 0.721 | prob.delet. | None | None | None | None | N |
| S/E | 0.8279 | likely_pathogenic | 0.9004 | pathogenic | -0.487 | Destabilizing | 0.989 | D | 0.717 | prob.delet. | None | None | None | None | N |
| S/F | 0.4535 | ambiguous | 0.6351 | pathogenic | -0.853 | Destabilizing | 0.999 | D | 0.773 | deleterious | N | 0.508395848 | None | None | N |
| S/G | 0.1448 | likely_benign | 0.2248 | benign | -1.231 | Destabilizing | 0.991 | D | 0.677 | prob.neutral | None | None | None | None | N |
| S/H | 0.6506 | likely_pathogenic | 0.7367 | pathogenic | -1.556 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| S/I | 0.383 | ambiguous | 0.5228 | ambiguous | -0.149 | Destabilizing | 0.999 | D | 0.784 | deleterious | None | None | None | None | N |
| S/K | 0.8693 | likely_pathogenic | 0.9266 | pathogenic | -0.601 | Destabilizing | 0.992 | D | 0.681 | prob.neutral | None | None | None | None | N |
| S/L | 0.1626 | likely_benign | 0.2481 | benign | -0.149 | Destabilizing | 0.992 | D | 0.741 | deleterious | None | None | None | None | N |
| S/M | 0.3445 | ambiguous | 0.452 | ambiguous | 0.097 | Stabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| S/N | 0.4 | ambiguous | 0.553 | ambiguous | -0.746 | Destabilizing | 0.88 | D | 0.713 | prob.delet. | None | None | None | None | N |
| S/P | 0.8931 | likely_pathogenic | 0.9697 | pathogenic | -0.369 | Destabilizing | 0.997 | D | 0.76 | deleterious | D | 0.523791078 | None | None | N |
| S/Q | 0.7636 | likely_pathogenic | 0.8241 | pathogenic | -0.804 | Destabilizing | 0.999 | D | 0.747 | deleterious | None | None | None | None | N |
| S/R | 0.7972 | likely_pathogenic | 0.8862 | pathogenic | -0.594 | Destabilizing | 0.629 | D | 0.501 | neutral | None | None | None | None | N |
| S/T | 0.085 | likely_benign | 0.0994 | benign | -0.712 | Destabilizing | 0.069 | N | 0.471 | neutral | N | 0.456964275 | None | None | N |
| S/V | 0.2972 | likely_benign | 0.3936 | ambiguous | -0.369 | Destabilizing | 0.994 | D | 0.76 | deleterious | None | None | None | None | N |
| S/W | 0.6154 | likely_pathogenic | 0.7666 | pathogenic | -0.85 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| S/Y | 0.4136 | ambiguous | 0.577 | pathogenic | -0.565 | Destabilizing | 1.0 | D | 0.772 | deleterious | N | 0.500913883 | 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.