Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28858 | 86797;86798;86799 | chr2:178559560;178559559;178559558 | chr2:179424287;179424286;179424285 |
| N2AB | 27217 | 81874;81875;81876 | chr2:178559560;178559559;178559558 | chr2:179424287;179424286;179424285 |
| N2A | 26290 | 79093;79094;79095 | chr2:178559560;178559559;178559558 | chr2:179424287;179424286;179424285 |
| N2B | 19793 | 59602;59603;59604 | chr2:178559560;178559559;178559558 | chr2:179424287;179424286;179424285 |
| Novex-1 | 19918 | 59977;59978;59979 | chr2:178559560;178559559;178559558 | chr2:179424287;179424286;179424285 |
| Novex-2 | 19985 | 60178;60179;60180 | chr2:178559560;178559559;178559558 | chr2:179424287;179424286;179424285 |
| 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/I | rs1456110995  |
-0.054 | 1.0 | N | 0.733 | 0.479 | 0.475430695062 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/I | rs1456110995 |
-0.054 | 1.0 | N | 0.733 | 0.479 | 0.475430695062 | gnomAD-4.0.0 | 1.59129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43291E-05 | 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 | 0.1909 | likely_benign | 0.1613 | benign | -0.942 | Destabilizing | 0.996 | D | 0.492 | neutral | N | 0.475780238 | None | None | N |
| T/C | 0.4963 | ambiguous | 0.4812 | ambiguous | -0.732 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| T/D | 0.4275 | ambiguous | 0.4306 | ambiguous | -0.594 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| T/E | 0.5613 | ambiguous | 0.5305 | ambiguous | -0.59 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| T/F | 0.5564 | ambiguous | 0.4993 | ambiguous | -1.072 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| T/G | 0.2299 | likely_benign | 0.2165 | benign | -1.186 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| T/H | 0.3732 | ambiguous | 0.3669 | ambiguous | -1.459 | Destabilizing | 1.0 | D | 0.662 | neutral | None | None | None | None | N |
| T/I | 0.6315 | likely_pathogenic | 0.5819 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.506508247 | None | None | N |
| T/K | 0.3052 | likely_benign | 0.2906 | benign | -0.763 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| T/L | 0.2291 | likely_benign | 0.1965 | benign | -0.382 | Destabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | N |
| T/M | 0.1753 | likely_benign | 0.1545 | benign | -0.038 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| T/N | 0.1341 | likely_benign | 0.137 | benign | -0.778 | Destabilizing | 1.0 | D | 0.748 | deleterious | N | 0.51719351 | None | None | N |
| T/P | 0.7528 | likely_pathogenic | 0.6776 | pathogenic | -0.538 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.499760297 | None | None | N |
| T/Q | 0.3174 | likely_benign | 0.3023 | benign | -1.024 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| T/R | 0.2744 | likely_benign | 0.2535 | benign | -0.479 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| T/S | 0.0971 | likely_benign | 0.0955 | benign | -1.053 | Destabilizing | 0.996 | D | 0.521 | neutral | N | 0.483734297 | None | None | N |
| T/V | 0.4457 | ambiguous | 0.4035 | ambiguous | -0.538 | Destabilizing | 1.0 | D | 0.589 | neutral | None | None | None | None | N |
| T/W | 0.8189 | likely_pathogenic | 0.7861 | pathogenic | -0.964 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| T/Y | 0.5688 | likely_pathogenic | 0.5361 | ambiguous | -0.721 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | 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.