Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15717 | 47374;47375;47376 | chr2:178618309;178618308;178618307 | chr2:179483036;179483035;179483034 |
| N2AB | 14076 | 42451;42452;42453 | chr2:178618309;178618308;178618307 | chr2:179483036;179483035;179483034 |
| N2A | 13149 | 39670;39671;39672 | chr2:178618309;178618308;178618307 | chr2:179483036;179483035;179483034 |
| N2B | 6652 | 20179;20180;20181 | chr2:178618309;178618308;178618307 | chr2:179483036;179483035;179483034 |
| Novex-1 | 6777 | 20554;20555;20556 | chr2:178618309;178618308;178618307 | chr2:179483036;179483035;179483034 |
| Novex-2 | 6844 | 20755;20756;20757 | chr2:178618309;178618308;178618307 | chr2:179483036;179483035;179483034 |
| 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/A | rs1249764555  |
-0.825 | 0.999 | D | 0.563 | 0.414 | 0.500805711387 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs1249764555 |
-0.825 | 0.999 | D | 0.563 | 0.414 | 0.500805711387 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | rs1249764555 |
-0.825 | 0.999 | D | 0.563 | 0.414 | 0.500805711387 | gnomAD-4.0.0 | 2.56572E-06 | None | None | None | None | N | None | 0 | 3.39536E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs1202910952 |
None | 1.0 | D | 0.855 | 0.497 | 0.624893835469 | gnomAD-4.0.0 | 3.42301E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.87287E-05 | 0 | 3.59946E-06 | 0 | 0 |
| T/P | None | None | 1.0 | D | 0.858 | 0.51 | 0.596957824077 | gnomAD-4.0.0 | 1.59334E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41896E-04 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1219 | likely_benign | 0.124 | benign | -0.737 | Destabilizing | 0.999 | D | 0.563 | neutral | D | 0.544587005 | None | None | N |
| T/C | 0.3715 | ambiguous | 0.3434 | ambiguous | -0.477 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| T/D | 0.6987 | likely_pathogenic | 0.709 | pathogenic | 0.288 | Stabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| T/E | 0.5671 | likely_pathogenic | 0.5618 | ambiguous | 0.274 | Stabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| T/F | 0.425 | ambiguous | 0.4189 | ambiguous | -0.955 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| T/G | 0.4351 | ambiguous | 0.4364 | ambiguous | -0.958 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| T/H | 0.3647 | ambiguous | 0.3412 | ambiguous | -1.199 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| T/I | 0.2226 | likely_benign | 0.2114 | benign | -0.253 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.555343604 | None | None | N |
| T/K | 0.3384 | likely_benign | 0.2801 | benign | -0.494 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| T/L | 0.1523 | likely_benign | 0.1486 | benign | -0.253 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | None | None | None | None | N |
| T/M | 0.123 | likely_benign | 0.1256 | benign | -0.101 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| T/N | 0.2335 | likely_benign | 0.243 | benign | -0.422 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.526617104 | None | None | N |
| T/P | 0.3057 | likely_benign | 0.3227 | benign | -0.383 | Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.534602442 | None | None | N |
| T/Q | 0.3292 | likely_benign | 0.3119 | benign | -0.558 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| T/R | 0.263 | likely_benign | 0.2313 | benign | -0.299 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| T/S | 0.1769 | likely_benign | 0.1896 | benign | -0.741 | Destabilizing | 0.999 | D | 0.528 | neutral | N | 0.488259776 | None | None | N |
| T/V | 0.1508 | likely_benign | 0.1425 | benign | -0.383 | Destabilizing | 0.999 | D | 0.591 | neutral | None | None | None | None | N |
| T/W | 0.7593 | likely_pathogenic | 0.7465 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| T/Y | 0.4695 | ambiguous | 0.4536 | ambiguous | -0.637 | Destabilizing | 1.0 | D | 0.885 | 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.