Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20811 | 62656;62657;62658 | chr2:178589294;178589293;178589292 | chr2:179454021;179454020;179454019 |
| N2AB | 19170 | 57733;57734;57735 | chr2:178589294;178589293;178589292 | chr2:179454021;179454020;179454019 |
| N2A | 18243 | 54952;54953;54954 | chr2:178589294;178589293;178589292 | chr2:179454021;179454020;179454019 |
| N2B | 11746 | 35461;35462;35463 | chr2:178589294;178589293;178589292 | chr2:179454021;179454020;179454019 |
| Novex-1 | 11871 | 35836;35837;35838 | chr2:178589294;178589293;178589292 | chr2:179454021;179454020;179454019 |
| Novex-2 | 11938 | 36037;36038;36039 | chr2:178589294;178589293;178589292 | chr2:179454021;179454020;179454019 |
| 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 | rs72646849  |
-0.863 | 1.0 | N | 0.722 | 0.471 | None | gnomAD-2.1.1 | 2.07201E-04 | None | None | None | None | N | None | 2.35635E-03 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/G | rs72646849 |
-0.863 | 1.0 | N | 0.722 | 0.471 | None | gnomAD-3.1.2 | 5.45931E-04 | None | None | None | None | N | None | 1.88315E-03 | 1.96515E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 9.57854E-04 |
| D/G | rs72646849 |
-0.863 | 1.0 | N | 0.722 | 0.471 | None | 1000 genomes | 1.39776E-03 | None | None | None | None | N | None | 5.3E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| D/G | rs72646849 |
-0.863 | 1.0 | N | 0.722 | 0.471 | None | gnomAD-4.0.0 | 1.09093E-04 | None | None | None | None | N | None | 2.1335E-03 | 1.0003E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60102E-04 |
| D/N | rs1476150726 |
-0.288 | 1.0 | N | 0.648 | 0.36 | 0.485634191555 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| D/N | rs1476150726 |
-0.288 | 1.0 | N | 0.648 | 0.36 | 0.485634191555 | gnomAD-4.0.0 | 3.18468E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86673E-05 | 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 | 0.3377 | likely_benign | 0.3353 | benign | -0.066 | Destabilizing | 1.0 | D | 0.754 | deleterious | N | 0.493674437 | None | None | N |
| D/C | 0.7901 | likely_pathogenic | 0.8145 | pathogenic | 0.209 | Stabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| D/E | 0.2766 | likely_benign | 0.3076 | benign | -0.149 | Destabilizing | 1.0 | D | 0.459 | neutral | N | 0.409594403 | None | None | N |
| D/F | 0.7679 | likely_pathogenic | 0.7672 | pathogenic | -0.157 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| D/G | 0.4121 | ambiguous | 0.4427 | ambiguous | -0.21 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | N | 0.494887945 | None | None | N |
| D/H | 0.5866 | likely_pathogenic | 0.5905 | pathogenic | 0.102 | Stabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.519495601 | None | None | N |
| D/I | 0.5279 | ambiguous | 0.5315 | ambiguous | 0.25 | Stabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| D/K | 0.7284 | likely_pathogenic | 0.7421 | pathogenic | 0.572 | Stabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| D/L | 0.5637 | ambiguous | 0.5611 | ambiguous | 0.25 | Stabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| D/M | 0.7665 | likely_pathogenic | 0.7838 | pathogenic | 0.313 | Stabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| D/N | 0.1684 | likely_benign | 0.1744 | benign | 0.356 | Stabilizing | 1.0 | D | 0.648 | neutral | N | 0.473088521 | None | None | N |
| D/P | 0.6926 | likely_pathogenic | 0.6927 | pathogenic | 0.166 | Stabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| D/Q | 0.6246 | likely_pathogenic | 0.6419 | pathogenic | 0.37 | Stabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| D/R | 0.7461 | likely_pathogenic | 0.7435 | pathogenic | 0.642 | Stabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| D/S | 0.2488 | likely_benign | 0.2588 | benign | 0.269 | Stabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| D/T | 0.4574 | ambiguous | 0.4834 | ambiguous | 0.383 | Stabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| D/V | 0.3445 | ambiguous | 0.337 | benign | 0.166 | Stabilizing | 1.0 | D | 0.787 | deleterious | N | 0.417600597 | None | None | N |
| D/W | 0.9481 | likely_pathogenic | 0.9434 | pathogenic | -0.098 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| D/Y | 0.406 | ambiguous | 0.4018 | ambiguous | 0.071 | Stabilizing | 1.0 | D | 0.734 | prob.delet. | N | 0.485367296 | 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.