Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20906 | 62941;62942;62943 | chr2:178589009;178589008;178589007 | chr2:179453736;179453735;179453734 |
| N2AB | 19265 | 58018;58019;58020 | chr2:178589009;178589008;178589007 | chr2:179453736;179453735;179453734 |
| N2A | 18338 | 55237;55238;55239 | chr2:178589009;178589008;178589007 | chr2:179453736;179453735;179453734 |
| N2B | 11841 | 35746;35747;35748 | chr2:178589009;178589008;178589007 | chr2:179453736;179453735;179453734 |
| Novex-1 | 11966 | 36121;36122;36123 | chr2:178589009;178589008;178589007 | chr2:179453736;179453735;179453734 |
| Novex-2 | 12033 | 36322;36323;36324 | chr2:178589009;178589008;178589007 | chr2:179453736;179453735;179453734 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs1386139408  |
-0.007 | 0.497 | N | 0.479 | 0.182 | 0.257786959452 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.69E-05 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs1386139408 |
-0.007 | 0.497 | N | 0.479 | 0.182 | 0.257786959452 | gnomAD-4.0.0 | 6.8533E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.53614E-05 | None | 0 | 0 | 0 | 0 | 0 |
| T/K | None | None | 0.124 | N | 0.479 | 0.14 | 0.194818534648 | gnomAD-4.0.0 | 2.74132E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59906E-06 | 0 | 0 |
| T/R | rs1386139408 |
-0.931 | 0.497 | N | 0.501 | 0.209 | 0.405700215632 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.97E-06 | 0 |
| T/R | rs1386139408 |
-0.931 | 0.497 | N | 0.501 | 0.209 | 0.405700215632 | gnomAD-4.0.0 | 6.8533E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99766E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1242 | likely_benign | 0.1381 | benign | -0.784 | Destabilizing | 0.055 | N | 0.403 | neutral | N | 0.439788732 | None | None | N |
| T/C | 0.4987 | ambiguous | 0.5857 | pathogenic | -0.367 | Destabilizing | 0.909 | D | 0.533 | neutral | None | None | None | None | N |
| T/D | 0.7679 | likely_pathogenic | 0.8169 | pathogenic | -0.56 | Destabilizing | 0.157 | N | 0.48 | neutral | None | None | None | None | N |
| T/E | 0.7055 | likely_pathogenic | 0.7366 | pathogenic | -0.53 | Destabilizing | 0.157 | N | 0.477 | neutral | None | None | None | None | N |
| T/F | 0.691 | likely_pathogenic | 0.7504 | pathogenic | -0.628 | Destabilizing | 0.726 | D | 0.623 | neutral | None | None | None | None | N |
| T/G | 0.2772 | likely_benign | 0.3214 | benign | -1.089 | Destabilizing | 0.157 | N | 0.575 | neutral | None | None | None | None | N |
| T/H | 0.6229 | likely_pathogenic | 0.6788 | pathogenic | -1.362 | Destabilizing | 0.909 | D | 0.635 | neutral | None | None | None | None | N |
| T/I | 0.5581 | ambiguous | 0.6123 | pathogenic | -0.045 | Destabilizing | 0.497 | N | 0.479 | neutral | N | 0.491468346 | None | None | N |
| T/K | 0.6182 | likely_pathogenic | 0.6338 | pathogenic | -0.969 | Destabilizing | 0.124 | N | 0.479 | neutral | N | 0.44340504 | None | None | N |
| T/L | 0.2844 | likely_benign | 0.3035 | benign | -0.045 | Destabilizing | 0.272 | N | 0.48 | neutral | None | None | None | None | N |
| T/M | 0.193 | likely_benign | 0.2312 | benign | 0.253 | Stabilizing | 0.968 | D | 0.521 | neutral | None | None | None | None | N |
| T/N | 0.2705 | likely_benign | 0.3099 | benign | -0.917 | Destabilizing | 0.157 | N | 0.455 | neutral | None | None | None | None | N |
| T/P | 0.5569 | ambiguous | 0.5152 | ambiguous | -0.258 | Destabilizing | 0.497 | N | 0.477 | neutral | N | 0.502146699 | None | None | N |
| T/Q | 0.4995 | ambiguous | 0.5416 | ambiguous | -0.989 | Destabilizing | 0.567 | D | 0.504 | neutral | None | None | None | None | N |
| T/R | 0.585 | likely_pathogenic | 0.6141 | pathogenic | -0.781 | Destabilizing | 0.497 | N | 0.501 | neutral | N | 0.516518719 | None | None | N |
| T/S | 0.0965 | likely_benign | 0.1182 | benign | -1.13 | Destabilizing | None | N | 0.242 | neutral | N | 0.479019123 | None | None | N |
| T/V | 0.3663 | ambiguous | 0.3854 | ambiguous | -0.258 | Destabilizing | 0.272 | N | 0.446 | neutral | None | None | None | None | N |
| T/W | 0.8451 | likely_pathogenic | 0.899 | pathogenic | -0.641 | Destabilizing | 0.968 | D | 0.68 | prob.neutral | None | None | None | None | N |
| T/Y | 0.5938 | likely_pathogenic | 0.6836 | pathogenic | -0.431 | Destabilizing | 0.726 | D | 0.633 | 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.