Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29646 | 89161;89162;89163 | chr2:178554175;178554174;178554173 | chr2:179418902;179418901;179418900 |
| N2AB | 28005 | 84238;84239;84240 | chr2:178554175;178554174;178554173 | chr2:179418902;179418901;179418900 |
| N2A | 27078 | 81457;81458;81459 | chr2:178554175;178554174;178554173 | chr2:179418902;179418901;179418900 |
| N2B | 20581 | 61966;61967;61968 | chr2:178554175;178554174;178554173 | chr2:179418902;179418901;179418900 |
| Novex-1 | 20706 | 62341;62342;62343 | chr2:178554175;178554174;178554173 | chr2:179418902;179418901;179418900 |
| Novex-2 | 20773 | 62542;62543;62544 | chr2:178554175;178554174;178554173 | chr2:179418902;179418901;179418900 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.581 | N | 0.452 | 0.34 | 0.202949470691 | gnomAD-4.0.0 | 1.60226E-06 | None | None | None | None | N | None | 5.76834E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs1338218286  |
0.041 | 0.908 | N | 0.765 | 0.44 | 0.481915485015 | gnomAD-2.1.1 | 4.13E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.14E-06 | 0 |
| T/I | rs1338218286 |
0.041 | 0.908 | N | 0.765 | 0.44 | 0.481915485015 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs1338218286 |
0.041 | 0.908 | N | 0.765 | 0.44 | 0.481915485015 | gnomAD-4.0.0 | 1.24283E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.6974E-06 | 0 | 0 |
| T/N | rs1338218286 |
None | 0.01 | N | 0.316 | 0.28 | 0.250039746154 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/N | rs1338218286 |
None | 0.01 | N | 0.316 | 0.28 | 0.250039746154 | gnomAD-4.0.0 | 1.24283E-06 | None | None | None | None | N | None | 2.68291E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1625 | likely_benign | 0.1708 | benign | -0.68 | Destabilizing | 0.581 | D | 0.452 | neutral | N | 0.485326118 | None | None | N |
| T/C | 0.5416 | ambiguous | 0.5312 | ambiguous | -0.6 | Destabilizing | 0.993 | D | 0.681 | prob.neutral | None | None | None | None | N |
| T/D | 0.586 | likely_pathogenic | 0.5881 | pathogenic | -1.432 | Destabilizing | 0.764 | D | 0.685 | prob.neutral | None | None | None | None | N |
| T/E | 0.6446 | likely_pathogenic | 0.667 | pathogenic | -1.4 | Destabilizing | 0.764 | D | 0.691 | prob.neutral | None | None | None | None | N |
| T/F | 0.5418 | ambiguous | 0.5898 | pathogenic | -0.816 | Destabilizing | 0.976 | D | 0.782 | deleterious | None | None | None | None | N |
| T/G | 0.2409 | likely_benign | 0.2539 | benign | -0.958 | Destabilizing | 0.48 | N | 0.631 | neutral | None | None | None | None | N |
| T/H | 0.4824 | ambiguous | 0.5019 | ambiguous | -1.386 | Destabilizing | 0.961 | D | 0.763 | deleterious | None | None | None | None | N |
| T/I | 0.6893 | likely_pathogenic | 0.7022 | pathogenic | -0.021 | Destabilizing | 0.908 | D | 0.765 | deleterious | N | 0.514243701 | None | None | N |
| T/K | 0.5384 | ambiguous | 0.5805 | pathogenic | -0.859 | Destabilizing | 0.764 | D | 0.699 | prob.neutral | None | None | None | None | N |
| T/L | 0.2297 | likely_benign | 0.252 | benign | -0.021 | Destabilizing | 0.648 | D | 0.635 | neutral | None | None | None | None | N |
| T/M | 0.1536 | likely_benign | 0.1691 | benign | 0.387 | Stabilizing | 0.993 | D | 0.703 | prob.neutral | None | None | None | None | N |
| T/N | 0.1731 | likely_benign | 0.1706 | benign | -1.12 | Destabilizing | 0.01 | N | 0.316 | neutral | N | 0.479005788 | None | None | N |
| T/P | 0.7947 | likely_pathogenic | 0.831 | pathogenic | -0.209 | Destabilizing | 0.908 | D | 0.755 | deleterious | D | 0.540741747 | None | None | N |
| T/Q | 0.3923 | ambiguous | 0.4159 | ambiguous | -1.302 | Destabilizing | 0.866 | D | 0.746 | deleterious | None | None | None | None | N |
| T/R | 0.4425 | ambiguous | 0.4906 | ambiguous | -0.63 | Destabilizing | 0.866 | D | 0.767 | deleterious | None | None | None | None | N |
| T/S | 0.1188 | likely_benign | 0.1206 | benign | -1.185 | Destabilizing | 0.41 | N | 0.455 | neutral | N | 0.47592289 | None | None | N |
| T/V | 0.4824 | ambiguous | 0.4851 | ambiguous | -0.209 | Destabilizing | 0.789 | D | 0.594 | neutral | None | None | None | None | N |
| T/W | 0.8331 | likely_pathogenic | 0.875 | pathogenic | -0.885 | Destabilizing | 0.993 | D | 0.735 | prob.delet. | None | None | None | None | N |
| T/Y | 0.5874 | likely_pathogenic | 0.6222 | pathogenic | -0.561 | Destabilizing | 0.976 | D | 0.779 | deleterious | None | None | 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.