Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31567 | 94924;94925;94926 | chr2:178546729;178546728;178546727 | chr2:179411456;179411455;179411454 |
| N2AB | 29926 | 90001;90002;90003 | chr2:178546729;178546728;178546727 | chr2:179411456;179411455;179411454 |
| N2A | 28999 | 87220;87221;87222 | chr2:178546729;178546728;178546727 | chr2:179411456;179411455;179411454 |
| N2B | 22502 | 67729;67730;67731 | chr2:178546729;178546728;178546727 | chr2:179411456;179411455;179411454 |
| Novex-1 | 22627 | 68104;68105;68106 | chr2:178546729;178546728;178546727 | chr2:179411456;179411455;179411454 |
| Novex-2 | 22694 | 68305;68306;68307 | chr2:178546729;178546728;178546727 | chr2:179411456;179411455;179411454 |
| 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/S | rs886042885  |
-0.94 | 0.992 | N | 0.499 | 0.192 | 0.152612264143 | gnomAD-2.1.1 | 4.29E-05 | None | None | None | None | N | None | 4.14E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.62E-05 | 0 |
| N/S | rs886042885 |
-0.94 | 0.992 | N | 0.499 | 0.192 | 0.152612264143 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| N/S | rs886042885 |
-0.94 | 0.992 | N | 0.499 | 0.192 | 0.152612264143 | gnomAD-4.0.0 | 5.51569E-05 | None | None | None | None | N | None | 4.00759E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.12012E-05 | 0 | 3.20297E-05 |
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 | 0.2839 | likely_benign | 0.2494 | benign | -0.787 | Destabilizing | 0.997 | D | 0.567 | neutral | None | None | None | None | N |
| N/C | 0.1759 | likely_benign | 0.1669 | benign | -0.018 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| N/D | 0.2603 | likely_benign | 0.2339 | benign | -0.386 | Destabilizing | 0.998 | D | 0.47 | neutral | N | 0.480096559 | None | None | N |
| N/E | 0.6071 | likely_pathogenic | 0.5384 | ambiguous | -0.207 | Destabilizing | 0.998 | D | 0.496 | neutral | None | None | None | None | N |
| N/F | 0.7683 | likely_pathogenic | 0.7369 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| N/G | 0.3428 | ambiguous | 0.3119 | benign | -1.151 | Destabilizing | 0.998 | D | 0.471 | neutral | None | None | None | None | N |
| N/H | 0.1441 | likely_benign | 0.131 | benign | -0.56 | Destabilizing | 1.0 | D | 0.64 | neutral | N | 0.478616479 | None | None | N |
| N/I | 0.4253 | ambiguous | 0.385 | ambiguous | 0.166 | Stabilizing | 0.999 | D | 0.757 | deleterious | N | 0.50076262 | None | None | N |
| N/K | 0.4292 | ambiguous | 0.3819 | ambiguous | 0.247 | Stabilizing | 0.998 | D | 0.507 | neutral | N | 0.462897665 | None | None | N |
| N/L | 0.2807 | likely_benign | 0.2803 | benign | 0.166 | Stabilizing | 0.999 | D | 0.689 | prob.neutral | None | None | None | None | N |
| N/M | 0.4274 | ambiguous | 0.405 | ambiguous | 0.235 | Stabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| N/P | 0.456 | ambiguous | 0.4237 | ambiguous | -0.124 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| N/Q | 0.4341 | ambiguous | 0.3861 | ambiguous | -0.31 | Destabilizing | 1.0 | D | 0.634 | neutral | None | None | None | None | N |
| N/R | 0.3826 | ambiguous | 0.3497 | ambiguous | 0.168 | Stabilizing | 1.0 | D | 0.597 | neutral | None | None | None | None | N |
| N/S | 0.0973 | likely_benign | 0.0942 | benign | -0.703 | Destabilizing | 0.992 | D | 0.499 | neutral | N | 0.462164159 | None | None | N |
| N/T | 0.1243 | likely_benign | 0.1175 | benign | -0.313 | Destabilizing | 0.767 | D | 0.489 | neutral | N | 0.313072641 | None | None | N |
| N/V | 0.3552 | ambiguous | 0.3325 | benign | -0.124 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | None | N |
| N/W | 0.9161 | likely_pathogenic | 0.9013 | pathogenic | -0.367 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| N/Y | 0.3077 | likely_benign | 0.2747 | benign | -0.038 | Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.50076262 | 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.