Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35673 | 107242;107243;107244 | chr2:178528734;178528733;178528732 | chr2:179393461;179393460;179393459 |
| N2AB | 34032 | 102319;102320;102321 | chr2:178528734;178528733;178528732 | chr2:179393461;179393460;179393459 |
| N2A | 33105 | 99538;99539;99540 | chr2:178528734;178528733;178528732 | chr2:179393461;179393460;179393459 |
| N2B | 26608 | 80047;80048;80049 | chr2:178528734;178528733;178528732 | chr2:179393461;179393460;179393459 |
| Novex-1 | 26733 | 80422;80423;80424 | chr2:178528734;178528733;178528732 | chr2:179393461;179393460;179393459 |
| Novex-2 | 26800 | 80623;80624;80625 | chr2:178528734;178528733;178528732 | chr2:179393461;179393460;179393459 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs786205290  |
None | 1.0 | N | 0.827 | 0.68 | 0.787985094505 | gnomAD-4.0.0 | 6.84448E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99714E-07 | 0 | 0 |
| G/V | None | None | 1.0 | N | 0.797 | 0.663 | 0.864047240088 | gnomAD-4.0.0 | 1.59261E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86094E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5973 | likely_pathogenic | 0.6259 | pathogenic | -0.781 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.513601888 | None | None | N |
| G/C | 0.9616 | likely_pathogenic | 0.9616 | pathogenic | -1.0 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/D | 0.9085 | likely_pathogenic | 0.9143 | pathogenic | -1.242 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/E | 0.9475 | likely_pathogenic | 0.9539 | pathogenic | -1.318 | Destabilizing | 1.0 | D | 0.83 | deleterious | N | 0.515312067 | None | None | N |
| G/F | 0.9924 | likely_pathogenic | 0.9919 | pathogenic | -1.18 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| G/H | 0.9917 | likely_pathogenic | 0.9919 | pathogenic | -1.344 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| G/I | 0.9784 | likely_pathogenic | 0.9786 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| G/K | 0.9835 | likely_pathogenic | 0.9839 | pathogenic | -1.289 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/L | 0.983 | likely_pathogenic | 0.9838 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| G/M | 0.9847 | likely_pathogenic | 0.9859 | pathogenic | -0.339 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| G/N | 0.9469 | likely_pathogenic | 0.9515 | pathogenic | -0.958 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| G/P | 0.9981 | likely_pathogenic | 0.998 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/Q | 0.9767 | likely_pathogenic | 0.9793 | pathogenic | -1.175 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| G/R | 0.9695 | likely_pathogenic | 0.9703 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.515189911 | None | None | N |
| G/S | 0.6285 | likely_pathogenic | 0.6463 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/T | 0.9226 | likely_pathogenic | 0.9323 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/V | 0.9503 | likely_pathogenic | 0.9529 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.515312067 | None | None | N |
| G/W | 0.9884 | likely_pathogenic | 0.9873 | pathogenic | -1.495 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| G/Y | 0.9875 | likely_pathogenic | 0.9868 | pathogenic | -1.103 | Destabilizing | 1.0 | D | 0.767 | 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.