Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19620 | 59083;59084;59085 | chr2:178593350;178593349;178593348 | chr2:179458077;179458076;179458075 |
| N2AB | 17979 | 54160;54161;54162 | chr2:178593350;178593349;178593348 | chr2:179458077;179458076;179458075 |
| N2A | 17052 | 51379;51380;51381 | chr2:178593350;178593349;178593348 | chr2:179458077;179458076;179458075 |
| N2B | 10555 | 31888;31889;31890 | chr2:178593350;178593349;178593348 | chr2:179458077;179458076;179458075 |
| Novex-1 | 10680 | 32263;32264;32265 | chr2:178593350;178593349;178593348 | chr2:179458077;179458076;179458075 |
| Novex-2 | 10747 | 32464;32465;32466 | chr2:178593350;178593349;178593348 | chr2:179458077;179458076;179458075 |
| 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 | rs1215190215  |
-1.175 | 0.999 | N | 0.559 | 0.241 | 0.276065633971 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65673E-04 |
| T/A | rs1215190215 |
-1.175 | 0.999 | N | 0.559 | 0.241 | 0.276065633971 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 1.31096E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | rs1215190215 |
-1.175 | 0.999 | N | 0.559 | 0.241 | 0.276065633971 | gnomAD-4.0.0 | 3.71926E-06 | None | None | None | None | N | None | 0 | 6.67312E-05 | None | 0 | 0 | None | 0 | 0 | 1.69556E-06 | 0 | 0 |
| T/P | None | None | 1.0 | N | 0.679 | 0.45 | 0.355450299083 | gnomAD-4.0.0 | 1.36873E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79923E-06 | 0 | 0 |
| T/S | None | None | 0.999 | N | 0.566 | 0.203 | 0.284539287134 | gnomAD-4.0.0 | 3.18425E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71955E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1272 | likely_benign | 0.1232 | benign | -0.822 | Destabilizing | 0.999 | D | 0.559 | neutral | N | 0.478037689 | None | None | N |
| T/C | 0.5364 | ambiguous | 0.587 | pathogenic | -0.508 | Destabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | N |
| T/D | 0.6437 | likely_pathogenic | 0.6595 | pathogenic | -0.647 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| T/E | 0.4455 | ambiguous | 0.4484 | ambiguous | -0.649 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| T/F | 0.4884 | ambiguous | 0.4953 | ambiguous | -0.805 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| T/G | 0.3578 | ambiguous | 0.3732 | ambiguous | -1.085 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| T/H | 0.4832 | ambiguous | 0.472 | ambiguous | -1.325 | Destabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | N |
| T/I | 0.2253 | likely_benign | 0.228 | benign | -0.207 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.506552441 | None | None | N |
| T/K | 0.2893 | likely_benign | 0.2683 | benign | -0.901 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| T/L | 0.14 | likely_benign | 0.1401 | benign | -0.207 | Destabilizing | 0.999 | D | 0.605 | neutral | None | None | None | None | N |
| T/M | 0.118 | likely_benign | 0.1094 | benign | 0.157 | Stabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | N |
| T/N | 0.2101 | likely_benign | 0.2088 | benign | -0.823 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | N | 0.505552364 | None | None | N |
| T/P | 0.1963 | likely_benign | 0.1845 | benign | -0.38 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | N | 0.460665436 | None | None | N |
| T/Q | 0.3487 | ambiguous | 0.336 | benign | -1.04 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| T/R | 0.291 | likely_benign | 0.2737 | benign | -0.572 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| T/S | 0.2061 | likely_benign | 0.2106 | benign | -1.056 | Destabilizing | 0.999 | D | 0.566 | neutral | N | 0.48225143 | None | None | N |
| T/V | 0.1587 | likely_benign | 0.1618 | benign | -0.38 | Destabilizing | 0.999 | D | 0.591 | neutral | None | None | None | None | N |
| T/W | 0.7934 | likely_pathogenic | 0.8051 | pathogenic | -0.736 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
| T/Y | 0.4905 | ambiguous | 0.503 | ambiguous | -0.53 | Destabilizing | 1.0 | D | 0.703 | prob.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.