Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5468 | 16627;16628;16629 | chr2:178732659;178732658;178732657 | chr2:179597386;179597385;179597384 |
| N2AB | 5151 | 15676;15677;15678 | chr2:178732659;178732658;178732657 | chr2:179597386;179597385;179597384 |
| N2A | 4224 | 12895;12896;12897 | chr2:178732659;178732658;178732657 | chr2:179597386;179597385;179597384 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/S | rs1294705818  |
None | None | N | 0.249 | 0.195 | 0.345859378078 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.64E-05 | None | 0 | None | 0 | 0 | 0 |
| C/S | rs1294705818 |
None | None | N | 0.249 | 0.195 | 0.345859378078 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.85505E-04 | None | 0 | 0 | 0 | 0 | 0 |
| C/S | rs1294705818 |
None | None | N | 0.249 | 0.195 | 0.345859378078 | gnomAD-4.0.0 | 6.42125E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.21696E-04 | None | 0 | 0 | 0 | 0 | 0 |
| C/W | rs944088736 |
-0.511 | 0.612 | N | 0.499 | 0.187 | 0.514472708086 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 6.49E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/W | rs944088736 |
-0.511 | 0.612 | N | 0.499 | 0.187 | 0.514472708086 | gnomAD-4.0.0 | 1.596E-06 | None | None | None | None | N | None | 5.67151E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.1682 | likely_benign | 0.175 | benign | -1.246 | Destabilizing | 0.003 | N | 0.361 | neutral | None | None | None | None | N |
| C/D | 0.2272 | likely_benign | 0.2711 | benign | 0.202 | Stabilizing | 0.072 | N | 0.479 | neutral | None | None | None | None | N |
| C/E | 0.2708 | likely_benign | 0.3178 | benign | 0.253 | Stabilizing | 0.031 | N | 0.425 | neutral | None | None | None | None | N |
| C/F | 0.0753 | likely_benign | 0.0804 | benign | -0.757 | Destabilizing | None | N | 0.373 | neutral | N | 0.374456669 | None | None | N |
| C/G | 0.1122 | likely_benign | 0.1134 | benign | -1.502 | Destabilizing | 0.012 | N | 0.402 | neutral | N | 0.427232361 | None | None | N |
| C/H | 0.1148 | likely_benign | 0.1288 | benign | -1.416 | Destabilizing | None | N | 0.425 | neutral | None | None | None | None | N |
| C/I | 0.1609 | likely_benign | 0.1785 | benign | -0.621 | Destabilizing | 0.016 | N | 0.421 | neutral | None | None | None | None | N |
| C/K | 0.2359 | likely_benign | 0.264 | benign | -0.518 | Destabilizing | 0.016 | N | 0.412 | neutral | None | None | None | None | N |
| C/L | 0.1618 | likely_benign | 0.1848 | benign | -0.621 | Destabilizing | 0.007 | N | 0.336 | neutral | None | None | None | None | N |
| C/M | 0.2924 | likely_benign | 0.3132 | benign | 0.04 | Stabilizing | 0.356 | N | 0.429 | neutral | None | None | None | None | N |
| C/N | 0.1468 | likely_benign | 0.1627 | benign | -0.373 | Destabilizing | 0.038 | N | 0.479 | neutral | None | None | None | None | N |
| C/P | 0.6396 | likely_pathogenic | 0.7569 | pathogenic | -0.802 | Destabilizing | 0.136 | N | 0.535 | neutral | None | None | None | None | N |
| C/Q | 0.1606 | likely_benign | 0.1781 | benign | -0.37 | Destabilizing | 0.072 | N | 0.529 | neutral | None | None | None | None | N |
| C/R | 0.0954 | likely_benign | 0.1038 | benign | -0.276 | Destabilizing | None | N | 0.453 | neutral | N | 0.334455486 | None | None | N |
| C/S | 0.1005 | likely_benign | 0.1053 | benign | -0.934 | Destabilizing | None | N | 0.249 | neutral | N | 0.317197877 | None | None | N |
| C/T | 0.1375 | likely_benign | 0.1442 | benign | -0.712 | Destabilizing | 0.016 | N | 0.396 | neutral | None | None | None | None | N |
| C/V | 0.159 | likely_benign | 0.1659 | benign | -0.802 | Destabilizing | None | N | 0.251 | neutral | None | None | None | None | N |
| C/W | 0.1871 | likely_benign | 0.2082 | benign | -0.703 | Destabilizing | 0.612 | D | 0.499 | neutral | N | 0.4086466 | None | None | N |
| C/Y | 0.0821 | likely_benign | 0.0938 | benign | -0.668 | Destabilizing | 0.029 | N | 0.492 | neutral | N | 0.397082812 | 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.