Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7754 | 23485;23486;23487 | chr2:178720502;178720501;178720500 | chr2:179585229;179585228;179585227 |
| N2AB | 7437 | 22534;22535;22536 | chr2:178720502;178720501;178720500 | chr2:179585229;179585228;179585227 |
| N2A | 6510 | 19753;19754;19755 | chr2:178720502;178720501;178720500 | chr2:179585229;179585228;179585227 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/N | None | None | None | N | 0.071 | 0.074 | 0.0551355673512 | gnomAD-4.0.0 | 2.05285E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69866E-06 | 0 | 0 |
| H/Q | rs1043714210  |
-0.36 | 0.003 | N | 0.156 | 0.06 | 0.0920862733494 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| H/Q | rs1043714210 |
-0.36 | 0.003 | N | 0.156 | 0.06 | 0.0920862733494 | 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 |
| H/Q | rs1043714210 |
-0.36 | 0.003 | N | 0.156 | 0.06 | 0.0920862733494 | gnomAD-4.0.0 | 3.04482E-06 | None | None | None | None | N | None | 5.24036E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/Y | None | None | 0.013 | N | 0.211 | 0.065 | 0.0806252709748 | gnomAD-4.0.0 | 6.84285E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.1595E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.1331 | likely_benign | 0.1289 | benign | -0.009 | Destabilizing | 0.002 | N | 0.245 | neutral | None | None | None | None | N |
| H/C | 0.1982 | likely_benign | 0.1973 | benign | 0.363 | Stabilizing | 0.316 | N | 0.369 | neutral | None | None | None | None | N |
| H/D | 0.0782 | likely_benign | 0.0814 | benign | -0.652 | Destabilizing | None | N | 0.083 | neutral | N | 0.330356388 | None | None | N |
| H/E | 0.1924 | likely_benign | 0.1953 | benign | -0.574 | Destabilizing | None | N | 0.063 | neutral | None | None | None | None | N |
| H/F | 0.2611 | likely_benign | 0.2628 | benign | 1.067 | Stabilizing | 0.011 | N | 0.358 | neutral | None | None | None | None | N |
| H/G | 0.1397 | likely_benign | 0.1433 | benign | -0.327 | Destabilizing | 0.001 | N | 0.226 | neutral | None | None | None | None | N |
| H/I | 0.2102 | likely_benign | 0.1869 | benign | 0.848 | Stabilizing | 0.004 | N | 0.306 | neutral | None | None | None | None | N |
| H/K | 0.1756 | likely_benign | 0.1804 | benign | 0.086 | Stabilizing | 0.001 | N | 0.199 | neutral | None | None | None | None | N |
| H/L | 0.102 | likely_benign | 0.0943 | benign | 0.848 | Stabilizing | None | N | 0.149 | neutral | N | 0.403702141 | None | None | N |
| H/M | 0.2969 | likely_benign | 0.2807 | benign | 0.397 | Stabilizing | 0.069 | N | 0.415 | neutral | None | None | None | None | N |
| H/N | 0.0318 | likely_benign | 0.0308 | benign | -0.268 | Destabilizing | None | N | 0.071 | neutral | N | 0.357158987 | None | None | N |
| H/P | 0.1358 | likely_benign | 0.1331 | benign | 0.584 | Stabilizing | 0.013 | N | 0.335 | neutral | N | 0.39565866 | None | None | N |
| H/Q | 0.1241 | likely_benign | 0.1229 | benign | -0.082 | Destabilizing | 0.003 | N | 0.156 | neutral | N | 0.389714123 | None | None | N |
| H/R | 0.1163 | likely_benign | 0.1166 | benign | -0.54 | Destabilizing | 0.003 | N | 0.143 | neutral | N | 0.410012037 | None | None | N |
| H/S | 0.0909 | likely_benign | 0.0896 | benign | -0.094 | Destabilizing | 0.001 | N | 0.18 | neutral | None | None | None | None | N |
| H/T | 0.1254 | likely_benign | 0.1214 | benign | 0.098 | Stabilizing | 0.002 | N | 0.245 | neutral | None | None | None | None | N |
| H/V | 0.1703 | likely_benign | 0.1559 | benign | 0.584 | Stabilizing | 0.002 | N | 0.287 | neutral | None | None | None | None | N |
| H/W | 0.4684 | ambiguous | 0.4823 | ambiguous | 1.197 | Stabilizing | 0.316 | N | 0.341 | neutral | None | None | None | None | N |
| H/Y | 0.083 | likely_benign | 0.0826 | benign | 1.289 | Stabilizing | 0.013 | N | 0.211 | neutral | N | 0.420845107 | 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.