Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18743 | 56452;56453;56454 | chr2:178599674;178599673;178599672 | chr2:179464401;179464400;179464399 |
| N2AB | 17102 | 51529;51530;51531 | chr2:178599674;178599673;178599672 | chr2:179464401;179464400;179464399 |
| N2A | 16175 | 48748;48749;48750 | chr2:178599674;178599673;178599672 | chr2:179464401;179464400;179464399 |
| N2B | 9678 | 29257;29258;29259 | chr2:178599674;178599673;178599672 | chr2:179464401;179464400;179464399 |
| Novex-1 | 9803 | 29632;29633;29634 | chr2:178599674;178599673;178599672 | chr2:179464401;179464400;179464399 |
| Novex-2 | 9870 | 29833;29834;29835 | chr2:178599674;178599673;178599672 | chr2:179464401;179464400;179464399 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1458979908  |
-0.729 | None | N | 0.128 | 0.142 | 0.258283824007 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| V/A | rs1458979908 |
-0.729 | None | N | 0.128 | 0.142 | 0.258283824007 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/A | rs1458979908 |
-0.729 | None | N | 0.128 | 0.142 | 0.258283824007 | gnomAD-4.0.0 | 6.5754E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47093E-05 | 0 | 0 |
| V/I | rs1412927935 |
-0.297 | 0.116 | N | 0.275 | 0.171 | 0.347879110917 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 8.71E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs1412927935 |
-0.297 | 0.116 | N | 0.275 | 0.171 | 0.347879110917 | gnomAD-4.0.0 | 4.77864E-06 | None | None | None | None | I | None | 0 | 6.86342E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.0856 | likely_benign | 0.0712 | benign | -0.407 | Destabilizing | None | N | 0.128 | neutral | N | 0.431220469 | None | None | I |
| V/C | 0.5133 | ambiguous | 0.4833 | ambiguous | -0.638 | Destabilizing | 0.749 | D | 0.337 | neutral | None | None | None | None | I |
| V/D | 0.1289 | likely_benign | 0.0995 | benign | -0.348 | Destabilizing | 0.001 | N | 0.337 | neutral | None | None | None | None | I |
| V/E | 0.1297 | likely_benign | 0.1082 | benign | -0.465 | Destabilizing | None | N | 0.25 | neutral | N | 0.424561068 | None | None | I |
| V/F | 0.1228 | likely_benign | 0.1135 | benign | -0.667 | Destabilizing | 0.749 | D | 0.423 | neutral | None | None | None | None | I |
| V/G | 0.1056 | likely_benign | 0.0783 | benign | -0.526 | Destabilizing | None | N | 0.322 | neutral | N | 0.487036466 | None | None | I |
| V/H | 0.2981 | likely_benign | 0.2538 | benign | -0.117 | Destabilizing | 0.749 | D | 0.443 | neutral | None | None | None | None | I |
| V/I | 0.0737 | likely_benign | 0.0753 | benign | -0.245 | Destabilizing | 0.116 | N | 0.275 | neutral | N | 0.440880102 | None | None | I |
| V/K | 0.1563 | likely_benign | 0.1232 | benign | -0.44 | Destabilizing | 0.08 | N | 0.322 | neutral | None | None | None | None | I |
| V/L | 0.1218 | likely_benign | 0.1132 | benign | -0.245 | Destabilizing | 0.116 | N | 0.272 | neutral | N | 0.440533385 | None | None | I |
| V/M | 0.0994 | likely_benign | 0.0952 | benign | -0.342 | Destabilizing | 0.901 | D | 0.309 | neutral | None | None | None | None | I |
| V/N | 0.105 | likely_benign | 0.0859 | benign | -0.191 | Destabilizing | 0.002 | N | 0.359 | neutral | None | None | None | None | I |
| V/P | 0.6457 | likely_pathogenic | 0.5644 | pathogenic | -0.265 | Destabilizing | 0.46 | N | 0.439 | neutral | None | None | None | None | I |
| V/Q | 0.1624 | likely_benign | 0.1339 | benign | -0.435 | Destabilizing | 0.174 | N | 0.436 | neutral | None | None | None | None | I |
| V/R | 0.167 | likely_benign | 0.1324 | benign | 0.081 | Stabilizing | 0.296 | N | 0.487 | neutral | None | None | None | None | I |
| V/S | 0.08 | likely_benign | 0.0661 | benign | -0.524 | Destabilizing | 0.007 | N | 0.251 | neutral | None | None | None | None | I |
| V/T | 0.0787 | likely_benign | 0.0695 | benign | -0.542 | Destabilizing | 0.002 | N | 0.143 | neutral | None | None | None | None | I |
| V/W | 0.633 | likely_pathogenic | 0.5896 | pathogenic | -0.752 | Destabilizing | 0.972 | D | 0.435 | neutral | None | None | None | None | I |
| V/Y | 0.3637 | ambiguous | 0.3356 | benign | -0.452 | Destabilizing | 0.901 | D | 0.42 | neutral | None | None | None | None | I |
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.