Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14363 | 43312;43313;43314 | chr2:178633044;178633043;178633042 | chr2:179497771;179497770;179497769 |
| N2AB | 12722 | 38389;38390;38391 | chr2:178633044;178633043;178633042 | chr2:179497771;179497770;179497769 |
| N2A | 11795 | 35608;35609;35610 | chr2:178633044;178633043;178633042 | chr2:179497771;179497770;179497769 |
| N2B | 5298 | 16117;16118;16119 | chr2:178633044;178633043;178633042 | chr2:179497771;179497770;179497769 |
| Novex-1 | 5423 | 16492;16493;16494 | chr2:178633044;178633043;178633042 | chr2:179497771;179497770;179497769 |
| Novex-2 | 5490 | 16693;16694;16695 | chr2:178633044;178633043;178633042 | chr2:179497771;179497770;179497769 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs745979661  |
-0.212 | 0.015 | N | 0.213 | 0.094 | 0.104622674875 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.62E-05 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs745979661 |
-0.212 | 0.015 | N | 0.213 | 0.094 | 0.104622674875 | gnomAD-4.0.0 | 1.5943E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78567E-05 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | rs745979661 |
-0.444 | 0.994 | D | 0.674 | 0.254 | 0.418344901717 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| D/Y | rs745979661 |
-0.444 | 0.994 | D | 0.674 | 0.254 | 0.418344901717 | gnomAD-4.0.0 | 1.5943E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02975E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1677 | likely_benign | 0.1673 | benign | -0.234 | Destabilizing | 0.518 | D | 0.437 | neutral | N | 0.480476268 | None | None | N |
| D/C | 0.6479 | likely_pathogenic | 0.6827 | pathogenic | 0.183 | Stabilizing | 0.996 | D | 0.637 | neutral | None | None | None | None | N |
| D/E | 0.1725 | likely_benign | 0.1564 | benign | -0.291 | Destabilizing | 0.007 | N | 0.252 | neutral | N | 0.462909085 | None | None | N |
| D/F | 0.5398 | ambiguous | 0.5612 | ambiguous | -0.409 | Destabilizing | 0.996 | D | 0.677 | prob.neutral | None | None | None | None | N |
| D/G | 0.1611 | likely_benign | 0.1701 | benign | -0.443 | Destabilizing | 0.518 | D | 0.489 | neutral | N | 0.44015909 | None | None | N |
| D/H | 0.2574 | likely_benign | 0.28 | benign | -0.583 | Destabilizing | 0.983 | D | 0.58 | neutral | N | 0.452090109 | None | None | N |
| D/I | 0.3587 | ambiguous | 0.3671 | ambiguous | 0.269 | Stabilizing | 0.953 | D | 0.707 | prob.delet. | None | None | None | None | N |
| D/K | 0.3618 | ambiguous | 0.3601 | ambiguous | 0.011 | Stabilizing | 0.587 | D | 0.556 | neutral | None | None | None | None | N |
| D/L | 0.3685 | ambiguous | 0.3951 | ambiguous | 0.269 | Stabilizing | 0.909 | D | 0.701 | prob.delet. | None | None | None | None | N |
| D/M | 0.6608 | likely_pathogenic | 0.6544 | pathogenic | 0.594 | Stabilizing | 0.996 | D | 0.669 | prob.neutral | None | None | None | None | N |
| D/N | 0.0843 | likely_benign | 0.0881 | benign | -0.028 | Destabilizing | 0.015 | N | 0.213 | neutral | N | 0.434475385 | None | None | N |
| D/P | 0.7915 | likely_pathogenic | 0.8492 | pathogenic | 0.124 | Stabilizing | 0.953 | D | 0.583 | neutral | None | None | None | None | N |
| D/Q | 0.3424 | ambiguous | 0.3314 | benign | 0.01 | Stabilizing | 0.833 | D | 0.593 | neutral | None | None | None | None | N |
| D/R | 0.3888 | ambiguous | 0.4079 | ambiguous | 0.047 | Stabilizing | 0.909 | D | 0.609 | neutral | None | None | None | None | N |
| D/S | 0.1195 | likely_benign | 0.1217 | benign | -0.195 | Destabilizing | 0.587 | D | 0.381 | neutral | None | None | None | None | N |
| D/T | 0.2369 | likely_benign | 0.2336 | benign | -0.049 | Destabilizing | 0.909 | D | 0.555 | neutral | None | None | None | None | N |
| D/V | 0.2249 | likely_benign | 0.2345 | benign | 0.124 | Stabilizing | 0.883 | D | 0.703 | prob.delet. | N | 0.483130889 | None | None | N |
| D/W | 0.8844 | likely_pathogenic | 0.9018 | pathogenic | -0.402 | Destabilizing | 0.996 | D | 0.557 | neutral | None | None | None | None | N |
| D/Y | 0.1955 | likely_benign | 0.2218 | benign | -0.23 | Destabilizing | 0.994 | D | 0.674 | prob.neutral | D | 0.546662421 | 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.