Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18183 | 54772;54773;54774 | chr2:178604140;178604139;178604138 | chr2:179468867;179468866;179468865 |
| N2AB | 16542 | 49849;49850;49851 | chr2:178604140;178604139;178604138 | chr2:179468867;179468866;179468865 |
| N2A | 15615 | 47068;47069;47070 | chr2:178604140;178604139;178604138 | chr2:179468867;179468866;179468865 |
| N2B | 9118 | 27577;27578;27579 | chr2:178604140;178604139;178604138 | chr2:179468867;179468866;179468865 |
| Novex-1 | 9243 | 27952;27953;27954 | chr2:178604140;178604139;178604138 | chr2:179468867;179468866;179468865 |
| Novex-2 | 9310 | 28153;28154;28155 | chr2:178604140;178604139;178604138 | chr2:179468867;179468866;179468865 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | rs1217449889  |
-0.515 | 0.985 | N | 0.611 | 0.39 | 0.528811570836 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| M/I | rs1217449889 |
-0.515 | 0.985 | N | 0.611 | 0.39 | 0.528811570836 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| M/I | rs1217449889 |
-0.515 | 0.985 | N | 0.611 | 0.39 | 0.528811570836 | gnomAD-4.0.0 | 6.58085E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47206E-05 | 0 | 0 |
| M/V | rs1214008596 |
None | 0.985 | N | 0.495 | 0.434 | 0.504480301252 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| M/V | rs1214008596 |
None | 0.985 | N | 0.495 | 0.434 | 0.504480301252 | gnomAD-4.0.0 | 6.57929E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47206E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.9045 | likely_pathogenic | 0.774 | pathogenic | -2.128 | Highly Destabilizing | 0.989 | D | 0.696 | prob.neutral | None | None | None | None | N |
| M/C | 0.8577 | likely_pathogenic | 0.8203 | pathogenic | -2.783 | Highly Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| M/D | 0.998 | likely_pathogenic | 0.9971 | pathogenic | -2.288 | Highly Destabilizing | 0.999 | D | 0.789 | deleterious | None | None | None | None | N |
| M/E | 0.9872 | likely_pathogenic | 0.9781 | pathogenic | -2.063 | Highly Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
| M/F | 0.6574 | likely_pathogenic | 0.6412 | pathogenic | -0.761 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | None | None | None | None | N |
| M/G | 0.9814 | likely_pathogenic | 0.9594 | pathogenic | -2.598 | Highly Destabilizing | 0.995 | D | 0.763 | deleterious | None | None | None | None | N |
| M/H | 0.9825 | likely_pathogenic | 0.9742 | pathogenic | -2.304 | Highly Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| M/I | 0.722 | likely_pathogenic | 0.6145 | pathogenic | -0.788 | Destabilizing | 0.985 | D | 0.611 | neutral | N | 0.435476203 | None | None | N |
| M/K | 0.9652 | likely_pathogenic | 0.938 | pathogenic | -1.419 | Destabilizing | 0.994 | D | 0.791 | deleterious | N | 0.493525191 | None | None | N |
| M/L | 0.3549 | ambiguous | 0.2791 | benign | -0.788 | Destabilizing | 0.927 | D | 0.394 | neutral | N | 0.421618685 | None | None | N |
| M/N | 0.9839 | likely_pathogenic | 0.9793 | pathogenic | -1.846 | Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | None | None | N |
| M/P | 0.9983 | likely_pathogenic | 0.9972 | pathogenic | -1.216 | Destabilizing | 0.999 | D | 0.77 | deleterious | None | None | None | None | N |
| M/Q | 0.9204 | likely_pathogenic | 0.8626 | pathogenic | -1.543 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | None | None | None | None | N |
| M/R | 0.9652 | likely_pathogenic | 0.9289 | pathogenic | -1.572 | Destabilizing | 0.998 | D | 0.789 | deleterious | N | 0.493525191 | None | None | N |
| M/S | 0.9477 | likely_pathogenic | 0.9007 | pathogenic | -2.385 | Highly Destabilizing | 0.995 | D | 0.787 | deleterious | None | None | None | None | N |
| M/T | 0.9266 | likely_pathogenic | 0.8376 | pathogenic | -2.025 | Highly Destabilizing | 0.994 | D | 0.789 | deleterious | N | 0.470141017 | None | None | N |
| M/V | 0.2431 | likely_benign | 0.1851 | benign | -1.216 | Destabilizing | 0.985 | D | 0.495 | neutral | N | 0.385778102 | None | None | N |
| M/W | 0.9825 | likely_pathogenic | 0.9724 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| M/Y | 0.9538 | likely_pathogenic | 0.9462 | pathogenic | -1.044 | Destabilizing | 0.999 | D | 0.775 | 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.