Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2671 | 8236;8237;8238 | chr2:178771316;178771315;178771314 | chr2:179636043;179636042;179636041 |
| N2AB | 2671 | 8236;8237;8238 | chr2:178771316;178771315;178771314 | chr2:179636043;179636042;179636041 |
| N2A | 2671 | 8236;8237;8238 | chr2:178771316;178771315;178771314 | chr2:179636043;179636042;179636041 |
| N2B | 2625 | 8098;8099;8100 | chr2:178771316;178771315;178771314 | chr2:179636043;179636042;179636041 |
| Novex-1 | 2625 | 8098;8099;8100 | chr2:178771316;178771315;178771314 | chr2:179636043;179636042;179636041 |
| Novex-2 | 2625 | 8098;8099;8100 | chr2:178771316;178771315;178771314 | chr2:179636043;179636042;179636041 |
| Novex-3 | 2671 | 8236;8237;8238 | chr2:178771316;178771315;178771314 | chr2:179636043;179636042;179636041 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | None | None | 0.006 | N | 0.307 | 0.245 | 0.184867976434 | gnomAD-4.0.0 | 6.8409E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99303E-07 | 0 | 0 |
| G/V | rs758484720  |
-0.544 | 0.761 | D | 0.591 | 0.513 | 0.715954125161 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/V | rs758484720 |
-0.544 | 0.761 | D | 0.591 | 0.513 | 0.715954125161 | gnomAD-4.0.0 | 6.8409E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.29 | likely_benign | 0.306 | benign | -0.543 | Destabilizing | 0.013 | N | 0.281 | neutral | D | 0.591331169 | None | None | N |
| G/C | 0.388 | ambiguous | 0.4002 | ambiguous | -0.816 | Destabilizing | 0.993 | D | 0.607 | neutral | D | 0.736650513 | None | None | N |
| G/D | 0.2395 | likely_benign | 0.2638 | benign | -1.112 | Destabilizing | 0.006 | N | 0.307 | neutral | N | 0.509090144 | None | None | N |
| G/E | 0.3145 | likely_benign | 0.3516 | ambiguous | -1.269 | Destabilizing | 0.547 | D | 0.428 | neutral | None | None | None | None | N |
| G/F | 0.747 | likely_pathogenic | 0.759 | pathogenic | -1.227 | Destabilizing | 0.894 | D | 0.593 | neutral | None | None | None | None | N |
| G/H | 0.4675 | ambiguous | 0.4815 | ambiguous | -0.901 | Destabilizing | 0.038 | N | 0.385 | neutral | None | None | None | None | N |
| G/I | 0.4985 | ambiguous | 0.5145 | ambiguous | -0.568 | Destabilizing | 0.894 | D | 0.599 | neutral | None | None | None | None | N |
| G/K | 0.4081 | ambiguous | 0.4429 | ambiguous | -1.128 | Destabilizing | 0.894 | D | 0.499 | neutral | None | None | None | None | N |
| G/L | 0.6296 | likely_pathogenic | 0.6578 | pathogenic | -0.568 | Destabilizing | 0.894 | D | 0.585 | neutral | None | None | None | None | N |
| G/M | 0.7092 | likely_pathogenic | 0.7266 | pathogenic | -0.393 | Destabilizing | 0.995 | D | 0.6 | neutral | None | None | None | None | N |
| G/N | 0.3131 | likely_benign | 0.3337 | benign | -0.669 | Destabilizing | 0.809 | D | 0.443 | neutral | None | None | None | None | N |
| G/P | 0.9054 | likely_pathogenic | 0.9216 | pathogenic | -0.524 | Destabilizing | 0.945 | D | 0.494 | neutral | None | None | None | None | N |
| G/Q | 0.3832 | ambiguous | 0.4066 | ambiguous | -1.007 | Destabilizing | 0.894 | D | 0.497 | neutral | None | None | None | None | N |
| G/R | 0.3039 | likely_benign | 0.3231 | benign | -0.594 | Destabilizing | 0.864 | D | 0.492 | neutral | D | 0.672907569 | None | None | N |
| G/S | 0.158 | likely_benign | 0.1608 | benign | -0.78 | Destabilizing | 0.477 | N | 0.399 | neutral | D | 0.671366857 | None | None | N |
| G/T | 0.3634 | ambiguous | 0.3845 | ambiguous | -0.881 | Destabilizing | 0.894 | D | 0.473 | neutral | None | None | None | None | N |
| G/V | 0.437 | ambiguous | 0.4554 | ambiguous | -0.524 | Destabilizing | 0.761 | D | 0.591 | neutral | D | 0.73485439 | None | None | N |
| G/W | 0.5814 | likely_pathogenic | 0.5959 | pathogenic | -1.402 | Destabilizing | 0.995 | D | 0.552 | neutral | None | None | None | None | N |
| G/Y | 0.5906 | likely_pathogenic | 0.6006 | pathogenic | -1.071 | Destabilizing | 0.809 | D | 0.591 | 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.