Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33565 | 100918;100919;100920 | chr2:178536054;178536053;178536052 | chr2:179400781;179400780;179400779 |
| N2AB | 31924 | 95995;95996;95997 | chr2:178536054;178536053;178536052 | chr2:179400781;179400780;179400779 |
| N2A | 30997 | 93214;93215;93216 | chr2:178536054;178536053;178536052 | chr2:179400781;179400780;179400779 |
| N2B | 24500 | 73723;73724;73725 | chr2:178536054;178536053;178536052 | chr2:179400781;179400780;179400779 |
| Novex-1 | 24625 | 74098;74099;74100 | chr2:178536054;178536053;178536052 | chr2:179400781;179400780;179400779 |
| Novex-2 | 24692 | 74299;74300;74301 | chr2:178536054;178536053;178536052 | chr2:179400781;179400780;179400779 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs373484505  |
None | 0.974 | N | 0.724 | 0.497 | None | gnomAD-4.0.0 | 1.24647E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.63503E-05 | 0 | 0 |
| A/T | rs373484505 |
None | 0.63 | N | 0.461 | 0.176 | 0.395894371353 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92678E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs373484505 |
None | 0.63 | N | 0.461 | 0.176 | 0.395894371353 | gnomAD-4.0.0 | 1.87944E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.71081E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs1691364591 |
None | 0.05 | D | 0.282 | 0.225 | 0.398133443147 | 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 |
| A/V | rs1691364591 |
None | 0.05 | D | 0.282 | 0.225 | 0.398133443147 | gnomAD-4.0.0 | 1.25329E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.71146E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6337 | likely_pathogenic | 0.6864 | pathogenic | -1.181 | Destabilizing | 0.998 | D | 0.581 | neutral | None | None | None | None | N |
| A/D | 0.7658 | likely_pathogenic | 0.7503 | pathogenic | -1.861 | Destabilizing | 0.948 | D | 0.754 | deleterious | N | 0.49427187 | None | None | N |
| A/E | 0.6176 | likely_pathogenic | 0.57 | pathogenic | -1.931 | Destabilizing | 0.971 | D | 0.655 | neutral | None | None | None | None | N |
| A/F | 0.8134 | likely_pathogenic | 0.8065 | pathogenic | -1.447 | Destabilizing | 0.989 | D | 0.78 | deleterious | None | None | None | None | N |
| A/G | 0.2078 | likely_benign | 0.2187 | benign | -1.274 | Destabilizing | 0.336 | N | 0.458 | neutral | N | 0.509972041 | None | None | N |
| A/H | 0.8251 | likely_pathogenic | 0.8156 | pathogenic | -1.276 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| A/I | 0.7275 | likely_pathogenic | 0.7249 | pathogenic | -0.699 | Destabilizing | 0.94 | D | 0.661 | neutral | None | None | None | None | N |
| A/K | 0.8267 | likely_pathogenic | 0.7613 | pathogenic | -1.266 | Destabilizing | 0.989 | D | 0.655 | neutral | None | None | None | None | N |
| A/L | 0.6281 | likely_pathogenic | 0.6247 | pathogenic | -0.699 | Destabilizing | 0.928 | D | 0.523 | neutral | None | None | None | None | N |
| A/M | 0.5926 | likely_pathogenic | 0.6065 | pathogenic | -0.466 | Destabilizing | 0.997 | D | 0.7 | prob.neutral | None | None | None | None | N |
| A/N | 0.5485 | ambiguous | 0.5773 | pathogenic | -1.068 | Destabilizing | 0.739 | D | 0.77 | deleterious | None | None | None | None | N |
| A/P | 0.9528 | likely_pathogenic | 0.9486 | pathogenic | -0.788 | Destabilizing | 0.974 | D | 0.724 | prob.delet. | N | 0.497800012 | None | None | N |
| A/Q | 0.6141 | likely_pathogenic | 0.576 | pathogenic | -1.365 | Destabilizing | 0.995 | D | 0.734 | prob.delet. | None | None | None | None | N |
| A/R | 0.7533 | likely_pathogenic | 0.6361 | pathogenic | -0.758 | Destabilizing | 0.995 | D | 0.721 | prob.delet. | None | None | None | None | N |
| A/S | 0.0934 | likely_benign | 0.105 | benign | -1.336 | Destabilizing | 0.015 | N | 0.26 | neutral | N | 0.453865255 | None | None | N |
| A/T | 0.204 | likely_benign | 0.2163 | benign | -1.331 | Destabilizing | 0.63 | D | 0.461 | neutral | N | 0.497426818 | None | None | N |
| A/V | 0.4373 | ambiguous | 0.4288 | ambiguous | -0.788 | Destabilizing | 0.05 | N | 0.282 | neutral | D | 0.525690855 | None | None | N |
| A/W | 0.9765 | likely_pathogenic | 0.9711 | pathogenic | -1.681 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| A/Y | 0.8665 | likely_pathogenic | 0.8573 | pathogenic | -1.318 | Destabilizing | 0.995 | D | 0.782 | 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.