Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7222 | 21889;21890;21891 | chr2:178723436;178723435;178723434 | chr2:179588163;179588162;179588161 |
| N2AB | 6905 | 20938;20939;20940 | chr2:178723436;178723435;178723434 | chr2:179588163;179588162;179588161 |
| N2A | 5978 | 18157;18158;18159 | chr2:178723436;178723435;178723434 | chr2:179588163;179588162;179588161 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs776840421  |
0.116 | 0.062 | D | 0.765 | 0.211 | 0.356484672536 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.58E-05 | None | 0 | 8.93E-06 | 0 |
| T/I | rs776840421 |
0.116 | 0.062 | D | 0.765 | 0.211 | 0.356484672536 | gnomAD-4.0.0 | 7.53268E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79997E-06 | 1.04578E-04 | 0 |
| T/P | None | None | 0.317 | N | 0.83 | 0.41 | 0.389596023526 | gnomAD-4.0.0 | 1.59454E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8638E-06 | 0 | 0 |
| T/S | rs776840421 |
-1.754 | 0.027 | D | 0.559 | 0.12 | 0.195762928549 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/S | rs776840421 |
-1.754 | 0.027 | D | 0.559 | 0.12 | 0.195762928549 | 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/S | rs776840421 |
-1.754 | 0.027 | D | 0.559 | 0.12 | 0.195762928549 | gnomAD-4.0.0 | 1.8605E-06 | None | None | None | None | N | None | 2.67101E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60292E-05 |
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 | 0.0669 | likely_benign | 0.0731 | benign | -1.065 | Destabilizing | None | N | 0.176 | neutral | N | 0.430561534 | None | None | N |
| T/C | 0.5392 | ambiguous | 0.5395 | ambiguous | -0.673 | Destabilizing | 0.824 | D | 0.774 | deleterious | None | None | None | None | N |
| T/D | 0.8629 | likely_pathogenic | 0.8673 | pathogenic | -1.039 | Destabilizing | 0.38 | N | 0.823 | deleterious | None | None | None | None | N |
| T/E | 0.7808 | likely_pathogenic | 0.7763 | pathogenic | -0.873 | Destabilizing | 0.149 | N | 0.79 | deleterious | None | None | None | None | N |
| T/F | 0.7224 | likely_pathogenic | 0.6767 | pathogenic | -0.699 | Destabilizing | 0.555 | D | 0.81 | deleterious | None | None | None | None | N |
| T/G | 0.3555 | ambiguous | 0.3666 | ambiguous | -1.484 | Destabilizing | 0.081 | N | 0.709 | prob.delet. | None | None | None | None | N |
| T/H | 0.7354 | likely_pathogenic | 0.7271 | pathogenic | -1.633 | Destabilizing | 0.935 | D | 0.76 | deleterious | None | None | None | None | N |
| T/I | 0.4496 | ambiguous | 0.4074 | ambiguous | 0.023 | Stabilizing | 0.062 | N | 0.765 | deleterious | D | 0.524282558 | None | None | N |
| T/K | 0.6872 | likely_pathogenic | 0.682 | pathogenic | -0.627 | Destabilizing | 0.149 | N | 0.789 | deleterious | None | None | None | None | N |
| T/L | 0.2935 | likely_benign | 0.2581 | benign | 0.023 | Stabilizing | 0.035 | N | 0.677 | prob.neutral | None | None | None | None | N |
| T/M | 0.2192 | likely_benign | 0.1863 | benign | 0.132 | Stabilizing | 0.555 | D | 0.78 | deleterious | None | None | None | None | N |
| T/N | 0.467 | ambiguous | 0.4425 | ambiguous | -1.151 | Destabilizing | 0.484 | N | 0.732 | prob.delet. | N | 0.517079128 | None | None | N |
| T/P | 0.6664 | likely_pathogenic | 0.6548 | pathogenic | -0.306 | Destabilizing | 0.317 | N | 0.83 | deleterious | N | 0.517332617 | None | None | N |
| T/Q | 0.6276 | likely_pathogenic | 0.6093 | pathogenic | -0.976 | Destabilizing | 0.555 | D | 0.819 | deleterious | None | None | None | None | N |
| T/R | 0.5662 | likely_pathogenic | 0.5641 | pathogenic | -0.779 | Destabilizing | 0.38 | N | 0.823 | deleterious | None | None | None | None | N |
| T/S | 0.1632 | likely_benign | 0.1664 | benign | -1.424 | Destabilizing | 0.027 | N | 0.559 | neutral | D | 0.526016142 | None | None | N |
| T/V | 0.2189 | likely_benign | 0.2124 | benign | -0.306 | Destabilizing | 0.002 | N | 0.238 | neutral | None | None | None | None | N |
| T/W | 0.9456 | likely_pathogenic | 0.9407 | pathogenic | -0.79 | Destabilizing | 0.935 | D | 0.769 | deleterious | None | None | None | None | N |
| T/Y | 0.7968 | likely_pathogenic | 0.7876 | pathogenic | -0.459 | Destabilizing | 0.555 | D | 0.802 | 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.