Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18845 | 56758;56759;56760 | chr2:178599260;178599259;178599258 | chr2:179463987;179463986;179463985 |
| N2AB | 17204 | 51835;51836;51837 | chr2:178599260;178599259;178599258 | chr2:179463987;179463986;179463985 |
| N2A | 16277 | 49054;49055;49056 | chr2:178599260;178599259;178599258 | chr2:179463987;179463986;179463985 |
| N2B | 9780 | 29563;29564;29565 | chr2:178599260;178599259;178599258 | chr2:179463987;179463986;179463985 |
| Novex-1 | 9905 | 29938;29939;29940 | chr2:178599260;178599259;178599258 | chr2:179463987;179463986;179463985 |
| Novex-2 | 9972 | 30139;30140;30141 | chr2:178599260;178599259;178599258 | chr2:179463987;179463986;179463985 |
| 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/M | rs371571153  |
-0.032 | 0.98 | N | 0.505 | 0.35 | None | gnomAD-2.1.1 | 5.71E-05 | None | None | None | None | N | None | 4.24E-05 | 7.3E-05 | None | 0 | 2.8112E-04 | None | 8.79E-05 | None | 0 | 3.43E-05 | 0 |
| T/M | rs371571153 |
-0.032 | 0.98 | N | 0.505 | 0.35 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 2.41E-05 | 1.96721E-04 | 1.0989E-03 | 0 | 5.84795E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/M | rs371571153 |
-0.032 | 0.98 | N | 0.505 | 0.35 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| T/M | rs371571153 |
-0.032 | 0.98 | N | 0.505 | 0.35 | None | gnomAD-4.0.0 | 2.66673E-05 | None | None | None | None | N | None | 2.73643E-05 | 1.36282E-04 | None | 0 | 5.17878E-04 | None | 0 | 0 | 6.00287E-06 | 2.42642E-05 | 0 |
| T/P | rs375000725 |
-0.408 | 0.004 | N | 0.328 | 0.271 | None | gnomAD-2.1.1 | 7.71E-05 | None | None | None | None | N | None | 4.23E-05 | 3.63E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.45314E-04 | 0 |
| T/P | rs375000725 |
-0.408 | 0.004 | N | 0.328 | 0.271 | None | gnomAD-3.1.2 | 7.24E-05 | None | None | None | None | N | None | 2.41E-05 | 1.31182E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.17644E-04 | 0 | 0 |
| T/P | rs375000725 |
-0.408 | 0.004 | N | 0.328 | 0.271 | None | gnomAD-4.0.0 | 4.50264E-05 | None | None | None | None | N | None | 1.36881E-05 | 7.75494E-05 | None | 0 | 0 | None | 0 | 0 | 5.22672E-05 | 0 | 8.20722E-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 | 0.0915 | likely_benign | 0.0926 | benign | -0.866 | Destabilizing | 0.201 | N | 0.362 | neutral | D | 0.52283419 | None | None | N |
| T/C | 0.3159 | likely_benign | 0.3269 | benign | -0.576 | Destabilizing | 0.992 | D | 0.475 | neutral | None | None | None | None | N |
| T/D | 0.4858 | ambiguous | 0.46 | ambiguous | -0.114 | Destabilizing | 0.85 | D | 0.485 | neutral | None | None | None | None | N |
| T/E | 0.3992 | ambiguous | 0.3695 | ambiguous | -0.062 | Destabilizing | 0.617 | D | 0.441 | neutral | None | None | None | None | N |
| T/F | 0.3023 | likely_benign | 0.3062 | benign | -0.897 | Destabilizing | 0.92 | D | 0.566 | neutral | None | None | None | None | N |
| T/G | 0.2978 | likely_benign | 0.2926 | benign | -1.164 | Destabilizing | 0.617 | D | 0.506 | neutral | None | None | None | None | N |
| T/H | 0.2369 | likely_benign | 0.23 | benign | -1.368 | Destabilizing | 0.992 | D | 0.543 | neutral | None | None | None | None | N |
| T/I | 0.1254 | likely_benign | 0.1237 | benign | -0.153 | Destabilizing | 0.021 | N | 0.259 | neutral | None | None | None | None | N |
| T/K | 0.2222 | likely_benign | 0.2027 | benign | -0.591 | Destabilizing | 0.756 | D | 0.45 | neutral | N | 0.485777311 | None | None | N |
| T/L | 0.1116 | likely_benign | 0.1121 | benign | -0.153 | Destabilizing | 0.25 | N | 0.347 | neutral | None | None | None | None | N |
| T/M | 0.097 | likely_benign | 0.0992 | benign | -0.068 | Destabilizing | 0.98 | D | 0.505 | neutral | N | 0.480276917 | None | None | N |
| T/N | 0.1362 | likely_benign | 0.1339 | benign | -0.74 | Destabilizing | 0.92 | D | 0.466 | neutral | None | None | None | None | N |
| T/P | 0.1787 | likely_benign | 0.1788 | benign | -0.358 | Destabilizing | 0.004 | N | 0.328 | neutral | N | 0.513830704 | None | None | N |
| T/Q | 0.2221 | likely_benign | 0.2143 | benign | -0.755 | Destabilizing | 0.92 | D | 0.511 | neutral | None | None | None | None | N |
| T/R | 0.1789 | likely_benign | 0.1677 | benign | -0.485 | Destabilizing | 0.957 | D | 0.511 | neutral | N | 0.464652678 | None | None | N |
| T/S | 0.1156 | likely_benign | 0.117 | benign | -1.039 | Destabilizing | 0.549 | D | 0.419 | neutral | D | 0.524103626 | None | None | N |
| T/V | 0.0954 | likely_benign | 0.0952 | benign | -0.358 | Destabilizing | 0.009 | N | 0.16 | neutral | None | None | None | None | N |
| T/W | 0.6598 | likely_pathogenic | 0.6623 | pathogenic | -0.879 | Destabilizing | 0.992 | D | 0.604 | neutral | None | None | None | None | N |
| T/Y | 0.3047 | likely_benign | 0.2857 | benign | -0.6 | Destabilizing | 0.972 | D | 0.565 | neutral | 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.