Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18410 | 55453;55454;55455 | chr2:178602043;178602042;178602041 | chr2:179466770;179466769;179466768 |
| N2AB | 16769 | 50530;50531;50532 | chr2:178602043;178602042;178602041 | chr2:179466770;179466769;179466768 |
| N2A | 15842 | 47749;47750;47751 | chr2:178602043;178602042;178602041 | chr2:179466770;179466769;179466768 |
| N2B | 9345 | 28258;28259;28260 | chr2:178602043;178602042;178602041 | chr2:179466770;179466769;179466768 |
| Novex-1 | 9470 | 28633;28634;28635 | chr2:178602043;178602042;178602041 | chr2:179466770;179466769;179466768 |
| Novex-2 | 9537 | 28834;28835;28836 | chr2:178602043;178602042;178602041 | chr2:179466770;179466769;179466768 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/L | rs1184146630  |
0.299 | 0.101 | N | 0.671 | 0.28 | 0.413761986042 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/L | rs1184146630 |
0.299 | 0.101 | N | 0.671 | 0.28 | 0.413761986042 | gnomAD-4.0.0 | 1.5933E-06 | None | None | None | None | N | None | 0 | 2.28791E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/P | rs778636992 |
-0.667 | 0.523 | N | 0.659 | 0.254 | 0.272639205421 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 8.7E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/P | rs778636992 |
-0.667 | 0.523 | N | 0.659 | 0.254 | 0.272639205421 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/P | rs778636992 |
-0.667 | 0.523 | N | 0.659 | 0.254 | 0.272639205421 | gnomAD-4.0.0 | 5.13206E-06 | None | None | None | None | N | None | 0 | 6.78817E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0718 | likely_benign | 0.0658 | benign | -0.729 | Destabilizing | 0.047 | N | 0.402 | neutral | N | 0.435548853 | None | None | N |
| S/C | 0.0643 | likely_benign | 0.067 | benign | -0.361 | Destabilizing | 0.94 | D | 0.752 | deleterious | None | None | None | None | N |
| S/D | 0.7633 | likely_pathogenic | 0.8185 | pathogenic | -0.55 | Destabilizing | 0.418 | N | 0.601 | neutral | None | None | None | None | N |
| S/E | 0.7794 | likely_pathogenic | 0.8148 | pathogenic | -0.472 | Destabilizing | 0.418 | N | 0.571 | neutral | None | None | None | None | N |
| S/F | 0.268 | likely_benign | 0.3105 | benign | -0.648 | Destabilizing | 0.836 | D | 0.784 | deleterious | None | None | None | None | N |
| S/G | 0.1508 | likely_benign | 0.1556 | benign | -1.072 | Destabilizing | 0.228 | N | 0.577 | neutral | None | None | None | None | N |
| S/H | 0.5116 | ambiguous | 0.5603 | ambiguous | -1.543 | Destabilizing | 0.94 | D | 0.752 | deleterious | None | None | None | None | N |
| S/I | 0.0858 | likely_benign | 0.1009 | benign | 0.102 | Stabilizing | 0.129 | N | 0.687 | prob.neutral | None | None | None | None | N |
| S/K | 0.8324 | likely_pathogenic | 0.8734 | pathogenic | -0.604 | Destabilizing | 0.418 | N | 0.569 | neutral | None | None | None | None | N |
| S/L | 0.1001 | likely_benign | 0.1153 | benign | 0.102 | Stabilizing | 0.101 | N | 0.671 | neutral | N | 0.43783701 | None | None | N |
| S/M | 0.1679 | likely_benign | 0.1869 | benign | 0.304 | Stabilizing | 0.836 | D | 0.742 | deleterious | None | None | None | None | N |
| S/N | 0.2439 | likely_benign | 0.2742 | benign | -0.783 | Destabilizing | 0.418 | N | 0.59 | neutral | None | None | None | None | N |
| S/P | 0.279 | likely_benign | 0.3456 | ambiguous | -0.138 | Destabilizing | 0.523 | D | 0.659 | neutral | N | 0.492442286 | None | None | N |
| S/Q | 0.6579 | likely_pathogenic | 0.6931 | pathogenic | -0.74 | Destabilizing | 0.836 | D | 0.689 | prob.neutral | None | None | None | None | N |
| S/R | 0.7781 | likely_pathogenic | 0.8215 | pathogenic | -0.741 | Destabilizing | 0.716 | D | 0.727 | prob.delet. | None | None | None | None | N |
| S/T | 0.0697 | likely_benign | 0.0724 | benign | -0.66 | Destabilizing | None | N | 0.273 | neutral | N | 0.473509808 | None | None | N |
| S/V | 0.0873 | likely_benign | 0.0939 | benign | -0.138 | Destabilizing | 0.001 | N | 0.531 | neutral | None | None | None | None | N |
| S/W | 0.4967 | ambiguous | 0.5489 | ambiguous | -0.743 | Destabilizing | 0.983 | D | 0.827 | deleterious | None | None | None | None | N |
| S/Y | 0.2398 | likely_benign | 0.2676 | benign | -0.425 | Destabilizing | 0.836 | D | 0.805 | 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.