Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7331 | 22216;22217;22218 | chr2:178722908;178722907;178722906 | chr2:179587635;179587634;179587633 |
| N2AB | 7014 | 21265;21266;21267 | chr2:178722908;178722907;178722906 | chr2:179587635;179587634;179587633 |
| N2A | 6087 | 18484;18485;18486 | chr2:178722908;178722907;178722906 | chr2:179587635;179587634;179587633 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/H | rs1301921042  |
None | 0.927 | N | 0.341 | 0.214 | 0.294918367191 | 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 |
| P/H | rs1301921042 |
None | 0.927 | N | 0.341 | 0.214 | 0.294918367191 | gnomAD-4.0.0 | 6.57428E-06 | None | None | None | None | N | None | 2.41336E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | None | None | 0.006 | N | 0.233 | 0.179 | 0.367612772649 | gnomAD-4.0.0 | 6.84741E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16139E-05 | 0 |
| P/T | rs2078660887 |
None | 0.642 | N | 0.28 | 0.122 | 0.215869574891 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | rs2078660887 |
None | 0.642 | N | 0.28 | 0.122 | 0.215869574891 | gnomAD-4.0.0 | 6.57471E-06 | None | None | None | None | N | None | 0 | 6.54965E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.073 | likely_benign | 0.0911 | benign | -0.574 | Destabilizing | 0.01 | N | 0.113 | neutral | N | 0.474428875 | None | None | N |
| P/C | 0.4245 | ambiguous | 0.6095 | pathogenic | -0.554 | Destabilizing | 0.995 | D | 0.353 | neutral | None | None | None | None | N |
| P/D | 0.2274 | likely_benign | 0.3089 | benign | -0.487 | Destabilizing | 0.007 | N | 0.175 | neutral | None | None | None | None | N |
| P/E | 0.1805 | likely_benign | 0.2516 | benign | -0.597 | Destabilizing | 0.329 | N | 0.283 | neutral | None | None | None | None | N |
| P/F | 0.2933 | likely_benign | 0.4611 | ambiguous | -0.755 | Destabilizing | 0.007 | N | 0.22 | neutral | None | None | None | None | N |
| P/G | 0.2256 | likely_benign | 0.3366 | benign | -0.723 | Destabilizing | 0.329 | N | 0.307 | neutral | None | None | None | None | N |
| P/H | 0.1229 | likely_benign | 0.1747 | benign | -0.329 | Destabilizing | 0.927 | D | 0.341 | neutral | N | 0.48680074 | None | None | N |
| P/I | 0.2122 | likely_benign | 0.3304 | benign | -0.327 | Destabilizing | 0.543 | D | 0.431 | neutral | None | None | None | None | N |
| P/K | 0.2043 | likely_benign | 0.302 | benign | -0.557 | Destabilizing | 0.543 | D | 0.311 | neutral | None | None | None | None | N |
| P/L | 0.094 | likely_benign | 0.1367 | benign | -0.327 | Destabilizing | 0.006 | N | 0.233 | neutral | N | 0.508541449 | None | None | N |
| P/M | 0.2364 | likely_benign | 0.3349 | benign | -0.357 | Destabilizing | 0.893 | D | 0.346 | neutral | None | None | None | None | N |
| P/N | 0.1823 | likely_benign | 0.2499 | benign | -0.236 | Destabilizing | 0.543 | D | 0.421 | neutral | None | None | None | None | N |
| P/Q | 0.1158 | likely_benign | 0.1674 | benign | -0.496 | Destabilizing | 0.085 | N | 0.176 | neutral | None | None | None | None | N |
| P/R | 0.1259 | likely_benign | 0.1915 | benign | -0.018 | Destabilizing | 0.863 | D | 0.417 | neutral | N | 0.505309143 | None | None | N |
| P/S | 0.0904 | likely_benign | 0.1229 | benign | -0.569 | Destabilizing | 0.27 | N | 0.281 | neutral | N | 0.424672059 | None | None | N |
| P/T | 0.0828 | likely_benign | 0.1164 | benign | -0.583 | Destabilizing | 0.642 | D | 0.28 | neutral | N | 0.481546849 | None | None | N |
| P/V | 0.1549 | likely_benign | 0.2254 | benign | -0.375 | Destabilizing | 0.329 | N | 0.303 | neutral | None | None | None | None | N |
| P/W | 0.4541 | ambiguous | 0.6608 | pathogenic | -0.845 | Destabilizing | 0.995 | D | 0.367 | neutral | None | None | None | None | N |
| P/Y | 0.2541 | likely_benign | 0.4012 | ambiguous | -0.554 | Destabilizing | 0.807 | D | 0.427 | neutral | 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.