Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16118 | 48577;48578;48579 | chr2:178615749;178615748;178615747 | chr2:179480476;179480475;179480474 |
| N2AB | 14477 | 43654;43655;43656 | chr2:178615749;178615748;178615747 | chr2:179480476;179480475;179480474 |
| N2A | 13550 | 40873;40874;40875 | chr2:178615749;178615748;178615747 | chr2:179480476;179480475;179480474 |
| N2B | 7053 | 21382;21383;21384 | chr2:178615749;178615748;178615747 | chr2:179480476;179480475;179480474 |
| Novex-1 | 7178 | 21757;21758;21759 | chr2:178615749;178615748;178615747 | chr2:179480476;179480475;179480474 |
| Novex-2 | 7245 | 21958;21959;21960 | chr2:178615749;178615748;178615747 | chr2:179480476;179480475;179480474 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs376273101  |
-0.095 | 1.0 | N | 0.681 | 0.478 | 0.209622950755 | gnomAD-2.1.1 | 2.2911E-04 | None | None | None | None | N | None | 0 | 2.84E-05 | None | 0 | 2.95459E-03 | None | 1.96284E-04 | None | 0 | 0 | 0 |
| D/G | rs376273101 |
-0.095 | 1.0 | N | 0.681 | 0.478 | 0.209622950755 | gnomAD-3.1.2 | 1.58007E-04 | None | None | None | None | N | None | 0 | 6.57E-05 | 0 | 0 | 3.5074E-03 | None | 0 | 0 | 0 | 8.285E-04 | 4.78011E-04 |
| D/G | rs376273101 |
-0.095 | 1.0 | N | 0.681 | 0.478 | 0.209622950755 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 2E-03 | 0 | None | None | None | 0 | None |
| D/G | rs376273101 |
-0.095 | 1.0 | N | 0.681 | 0.478 | 0.209622950755 | gnomAD-4.0.0 | 8.18837E-05 | None | None | None | None | N | None | 0 | 3.34024E-05 | None | 0 | 1.5009E-03 | None | 0 | 0 | 3.39338E-06 | 3.62677E-04 | 4.16693E-04 |
| D/V | None | None | 1.0 | D | 0.657 | 0.569 | 0.754712892271 | gnomAD-4.0.0 | 6.84916E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00203E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1958 | likely_benign | 0.2478 | benign | -0.057 | Destabilizing | 1.0 | D | 0.647 | neutral | D | 0.608324816 | None | None | N |
| D/C | 0.5651 | likely_pathogenic | 0.6845 | pathogenic | -0.119 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
| D/E | 0.1672 | likely_benign | 0.1963 | benign | -0.261 | Destabilizing | 1.0 | D | 0.445 | neutral | N | 0.479519021 | None | None | N |
| D/F | 0.6234 | likely_pathogenic | 0.6926 | pathogenic | -0.073 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| D/G | 0.1441 | likely_benign | 0.1738 | benign | -0.208 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | N | 0.444181651 | None | None | N |
| D/H | 0.2933 | likely_benign | 0.3841 | ambiguous | 0.431 | Stabilizing | 1.0 | D | 0.637 | neutral | D | 0.554870841 | None | None | N |
| D/I | 0.5099 | ambiguous | 0.6104 | pathogenic | 0.282 | Stabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| D/K | 0.4095 | ambiguous | 0.508 | ambiguous | 0.338 | Stabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| D/L | 0.4285 | ambiguous | 0.5207 | ambiguous | 0.282 | Stabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | N |
| D/M | 0.6169 | likely_pathogenic | 0.7101 | pathogenic | 0.125 | Stabilizing | 1.0 | D | 0.662 | neutral | None | None | None | None | N |
| D/N | 0.099 | likely_benign | 0.1199 | benign | 0.12 | Stabilizing | 1.0 | D | 0.655 | neutral | N | 0.453828564 | None | None | N |
| D/P | 0.8195 | likely_pathogenic | 0.8673 | pathogenic | 0.19 | Stabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | N |
| D/Q | 0.3294 | likely_benign | 0.4146 | ambiguous | 0.131 | Stabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | N |
| D/R | 0.4465 | ambiguous | 0.5513 | ambiguous | 0.619 | Stabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | N |
| D/S | 0.1351 | likely_benign | 0.168 | benign | -0.007 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
| D/T | 0.3007 | likely_benign | 0.3714 | ambiguous | 0.112 | Stabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| D/V | 0.312 | likely_benign | 0.3864 | ambiguous | 0.19 | Stabilizing | 1.0 | D | 0.657 | neutral | D | 0.687958196 | None | None | N |
| D/W | 0.8915 | likely_pathogenic | 0.9298 | pathogenic | -0.002 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
| D/Y | 0.2577 | likely_benign | 0.3099 | benign | 0.159 | Stabilizing | 1.0 | D | 0.669 | neutral | D | 0.626113028 | 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.