Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28818 | 86677;86678;86679 | chr2:178559680;178559679;178559678 | chr2:179424407;179424406;179424405 |
| N2AB | 27177 | 81754;81755;81756 | chr2:178559680;178559679;178559678 | chr2:179424407;179424406;179424405 |
| N2A | 26250 | 78973;78974;78975 | chr2:178559680;178559679;178559678 | chr2:179424407;179424406;179424405 |
| N2B | 19753 | 59482;59483;59484 | chr2:178559680;178559679;178559678 | chr2:179424407;179424406;179424405 |
| Novex-1 | 19878 | 59857;59858;59859 | chr2:178559680;178559679;178559678 | chr2:179424407;179424406;179424405 |
| Novex-2 | 19945 | 60058;60059;60060 | chr2:178559680;178559679;178559678 | chr2:179424407;179424406;179424405 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/H | rs1481995355  |
-0.531 | 0.484 | N | 0.357 | 0.098 | 0.151104730317 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.35E-05 | None | 0 | 0 | 0 |
| N/H | rs1481995355 |
-0.531 | 0.484 | N | 0.357 | 0.098 | 0.151104730317 | gnomAD-4.0.0 | 1.59839E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.44475E-05 | 0 |
| N/S | rs749233410 |
0.316 | None | N | 0.158 | 0.19 | 0.0482279557977 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.34E-05 | None | 0 | 0 | 0 |
| N/S | rs749233410 |
0.316 | None | N | 0.158 | 0.19 | 0.0482279557977 | gnomAD-4.0.0 | 1.59809E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.44434E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.1716 | likely_benign | 0.1441 | benign | -0.312 | Destabilizing | 0.035 | N | 0.344 | neutral | None | None | None | None | N |
| N/C | 0.218 | likely_benign | 0.1849 | benign | 0.464 | Stabilizing | 0.824 | D | 0.323 | neutral | None | None | None | None | N |
| N/D | 0.0994 | likely_benign | 0.0953 | benign | -0.046 | Destabilizing | None | N | 0.151 | neutral | N | 0.370608287 | None | None | N |
| N/E | 0.2427 | likely_benign | 0.2235 | benign | -0.092 | Destabilizing | 0.002 | N | 0.157 | neutral | None | None | None | None | N |
| N/F | 0.3091 | likely_benign | 0.2571 | benign | -0.729 | Destabilizing | 0.555 | D | 0.332 | neutral | None | None | None | None | N |
| N/G | 0.2368 | likely_benign | 0.1997 | benign | -0.471 | Destabilizing | 0.035 | N | 0.329 | neutral | None | None | None | None | N |
| N/H | 0.0832 | likely_benign | 0.0751 | benign | -0.557 | Destabilizing | 0.484 | N | 0.357 | neutral | N | 0.448917142 | None | None | N |
| N/I | 0.1805 | likely_benign | 0.1535 | benign | 0.02 | Stabilizing | 0.317 | N | 0.352 | neutral | N | 0.475391667 | None | None | N |
| N/K | 0.2324 | likely_benign | 0.204 | benign | 0.112 | Stabilizing | 0.062 | N | 0.285 | neutral | N | 0.421749184 | None | None | N |
| N/L | 0.1779 | likely_benign | 0.1501 | benign | 0.02 | Stabilizing | 0.149 | N | 0.377 | neutral | None | None | None | None | N |
| N/M | 0.2314 | likely_benign | 0.2026 | benign | 0.48 | Stabilizing | 0.935 | D | 0.3 | neutral | None | None | None | None | N |
| N/P | 0.7765 | likely_pathogenic | 0.7127 | pathogenic | -0.065 | Destabilizing | 0.38 | N | 0.339 | neutral | None | None | None | None | N |
| N/Q | 0.2182 | likely_benign | 0.1934 | benign | -0.308 | Destabilizing | 0.149 | N | 0.321 | neutral | None | None | None | None | N |
| N/R | 0.2501 | likely_benign | 0.2228 | benign | 0.2 | Stabilizing | 0.149 | N | 0.327 | neutral | None | None | None | None | N |
| N/S | 0.0809 | likely_benign | 0.0745 | benign | -0.037 | Destabilizing | None | N | 0.158 | neutral | N | 0.377840904 | None | None | N |
| N/T | 0.1126 | likely_benign | 0.0991 | benign | 0.048 | Stabilizing | 0.027 | N | 0.275 | neutral | N | 0.431080743 | None | None | N |
| N/V | 0.1916 | likely_benign | 0.1601 | benign | -0.065 | Destabilizing | 0.149 | N | 0.375 | neutral | None | None | None | None | N |
| N/W | 0.5499 | ambiguous | 0.5007 | ambiguous | -0.733 | Destabilizing | 0.935 | D | 0.449 | neutral | None | None | None | None | N |
| N/Y | 0.0984 | likely_benign | 0.0896 | benign | -0.463 | Destabilizing | 0.484 | N | 0.317 | neutral | N | 0.413439132 | 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.