Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32853 | 98782;98783;98784 | chr2:178539508;178539507;178539506 | chr2:179404235;179404234;179404233 |
| N2AB | 31212 | 93859;93860;93861 | chr2:178539508;178539507;178539506 | chr2:179404235;179404234;179404233 |
| N2A | 30285 | 91078;91079;91080 | chr2:178539508;178539507;178539506 | chr2:179404235;179404234;179404233 |
| N2B | 23788 | 71587;71588;71589 | chr2:178539508;178539507;178539506 | chr2:179404235;179404234;179404233 |
| Novex-1 | 23913 | 71962;71963;71964 | chr2:178539508;178539507;178539506 | chr2:179404235;179404234;179404233 |
| Novex-2 | 23980 | 72163;72164;72165 | chr2:178539508;178539507;178539506 | chr2:179404235;179404234;179404233 |
| 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 | rs746181929  |
-0.03 | 0.999 | D | 0.759 | 0.525 | 0.650937406085 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| T/I | rs746181929 |
-0.03 | 0.999 | D | 0.759 | 0.525 | 0.650937406085 | gnomAD-4.0.0 | 4.10519E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49739E-06 | 1.15931E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1862 | likely_benign | 0.1725 | benign | -0.994 | Destabilizing | 0.981 | D | 0.473 | neutral | N | 0.497603795 | None | None | N |
| T/C | 0.4995 | ambiguous | 0.4758 | ambiguous | -0.498 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| T/D | 0.6503 | likely_pathogenic | 0.6692 | pathogenic | 0.243 | Stabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | N |
| T/E | 0.5512 | ambiguous | 0.5779 | pathogenic | 0.336 | Stabilizing | 0.999 | D | 0.696 | prob.neutral | None | None | None | None | N |
| T/F | 0.4949 | ambiguous | 0.4958 | ambiguous | -1.084 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| T/G | 0.4526 | ambiguous | 0.429 | ambiguous | -1.298 | Destabilizing | 0.997 | D | 0.598 | neutral | None | None | None | None | N |
| T/H | 0.4582 | ambiguous | 0.4693 | ambiguous | -1.3 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| T/I | 0.3548 | ambiguous | 0.3248 | benign | -0.246 | Destabilizing | 0.999 | D | 0.759 | deleterious | D | 0.526890226 | None | None | N |
| T/K | 0.3301 | likely_benign | 0.367 | ambiguous | -0.13 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | N | 0.499516353 | None | None | N |
| T/L | 0.1266 | likely_benign | 0.1256 | benign | -0.246 | Destabilizing | 0.998 | D | 0.586 | neutral | None | None | None | None | N |
| T/M | 0.133 | likely_benign | 0.1255 | benign | -0.25 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| T/N | 0.1656 | likely_benign | 0.16 | benign | -0.414 | Destabilizing | 0.999 | D | 0.673 | neutral | None | None | None | None | N |
| T/P | 0.1878 | likely_benign | 0.1721 | benign | -0.465 | Destabilizing | 0.999 | D | 0.759 | deleterious | N | 0.488110822 | None | None | N |
| T/Q | 0.3353 | likely_benign | 0.3404 | ambiguous | -0.347 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| T/R | 0.2791 | likely_benign | 0.3094 | benign | -0.127 | Destabilizing | 0.999 | D | 0.756 | deleterious | N | 0.488515669 | None | None | N |
| T/S | 0.2197 | likely_benign | 0.2014 | benign | -0.835 | Destabilizing | 0.905 | D | 0.411 | neutral | N | 0.485121854 | None | None | N |
| T/V | 0.2704 | likely_benign | 0.2464 | benign | -0.465 | Destabilizing | 0.998 | D | 0.543 | neutral | None | None | None | None | N |
| T/W | 0.8391 | likely_pathogenic | 0.8408 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| T/Y | 0.5115 | ambiguous | 0.5109 | ambiguous | -0.727 | Destabilizing | 1.0 | D | 0.765 | deleterious | 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.