Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30168 | 90727;90728;90729 | chr2:178552398;178552397;178552396 | chr2:179417125;179417124;179417123 |
| N2AB | 28527 | 85804;85805;85806 | chr2:178552398;178552397;178552396 | chr2:179417125;179417124;179417123 |
| N2A | 27600 | 83023;83024;83025 | chr2:178552398;178552397;178552396 | chr2:179417125;179417124;179417123 |
| N2B | 21103 | 63532;63533;63534 | chr2:178552398;178552397;178552396 | chr2:179417125;179417124;179417123 |
| Novex-1 | 21228 | 63907;63908;63909 | chr2:178552398;178552397;178552396 | chr2:179417125;179417124;179417123 |
| Novex-2 | 21295 | 64108;64109;64110 | chr2:178552398;178552397;178552396 | chr2:179417125;179417124;179417123 |
| 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/G | rs1244536669  |
None | 1.0 | N | 0.686 | 0.491 | 0.236890367714 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs1244536669 |
None | 1.0 | N | 0.686 | 0.491 | 0.236890367714 | gnomAD-4.0.0 | 1.31387E-05 | None | None | None | None | N | None | 4.823E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.473 | ambiguous | 0.4092 | ambiguous | -0.492 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | N | 0.472068984 | None | None | N |
| D/C | 0.8261 | likely_pathogenic | 0.8117 | pathogenic | -0.166 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| D/E | 0.3134 | likely_benign | 0.2869 | benign | -0.264 | Destabilizing | 1.0 | D | 0.437 | neutral | N | 0.458773668 | None | None | N |
| D/F | 0.913 | likely_pathogenic | 0.8904 | pathogenic | -0.151 | Destabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | N |
| D/G | 0.2993 | likely_benign | 0.2542 | benign | -0.735 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | N | 0.499674036 | None | None | N |
| D/H | 0.7274 | likely_pathogenic | 0.6675 | pathogenic | -0.007 | Destabilizing | 1.0 | D | 0.619 | neutral | N | 0.493148981 | None | None | N |
| D/I | 0.8968 | likely_pathogenic | 0.8577 | pathogenic | 0.12 | Stabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| D/K | 0.8498 | likely_pathogenic | 0.8005 | pathogenic | 0.148 | Stabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| D/L | 0.8267 | likely_pathogenic | 0.7869 | pathogenic | 0.12 | Stabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| D/M | 0.9121 | likely_pathogenic | 0.8931 | pathogenic | 0.283 | Stabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | N |
| D/N | 0.1739 | likely_benign | 0.1595 | benign | -0.325 | Destabilizing | 1.0 | D | 0.59 | neutral | N | 0.492051844 | None | None | N |
| D/P | 0.9896 | likely_pathogenic | 0.9825 | pathogenic | -0.062 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| D/Q | 0.74 | likely_pathogenic | 0.6872 | pathogenic | -0.243 | Destabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| D/R | 0.8539 | likely_pathogenic | 0.8077 | pathogenic | 0.4 | Stabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| D/S | 0.3598 | ambiguous | 0.3059 | benign | -0.455 | Destabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | N |
| D/T | 0.7396 | likely_pathogenic | 0.6965 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| D/V | 0.7256 | likely_pathogenic | 0.6565 | pathogenic | -0.062 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | N | 0.49340247 | None | None | N |
| D/W | 0.9712 | likely_pathogenic | 0.9665 | pathogenic | 0.084 | Stabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | N |
| D/Y | 0.5513 | ambiguous | 0.4901 | ambiguous | 0.106 | Stabilizing | 1.0 | D | 0.641 | neutral | N | 0.504758775 | 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.