Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23921 | 71986;71987;71988 | chr2:178574371;178574370;178574369 | chr2:179439098;179439097;179439096 |
| N2AB | 22280 | 67063;67064;67065 | chr2:178574371;178574370;178574369 | chr2:179439098;179439097;179439096 |
| N2A | 21353 | 64282;64283;64284 | chr2:178574371;178574370;178574369 | chr2:179439098;179439097;179439096 |
| N2B | 14856 | 44791;44792;44793 | chr2:178574371;178574370;178574369 | chr2:179439098;179439097;179439096 |
| Novex-1 | 14981 | 45166;45167;45168 | chr2:178574371;178574370;178574369 | chr2:179439098;179439097;179439096 |
| Novex-2 | 15048 | 45367;45368;45369 | chr2:178574371;178574370;178574369 | chr2:179439098;179439097;179439096 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs369272565  |
None | 1.0 | N | 0.795 | 0.417 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | rs369272565 |
None | 1.0 | N | 0.795 | 0.417 | None | gnomAD-4.0.0 | 1.3155E-05 | None | None | None | None | N | None | 4.82882E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs745468509 |
-0.479 | 0.999 | N | 0.655 | 0.309 | 0.333651784274 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs745468509 |
-0.479 | 0.999 | N | 0.655 | 0.309 | 0.333651784274 | gnomAD-4.0.0 | 3.18319E-06 | None | None | None | None | N | None | 0 | 4.5731E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.672 | likely_pathogenic | 0.6689 | pathogenic | -1.516 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| A/D | 0.9962 | likely_pathogenic | 0.9955 | pathogenic | -2.761 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.488658167 | None | None | N |
| A/E | 0.9927 | likely_pathogenic | 0.9917 | pathogenic | -2.535 | Highly Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| A/F | 0.9597 | likely_pathogenic | 0.9675 | pathogenic | -0.676 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| A/G | 0.5677 | likely_pathogenic | 0.5821 | pathogenic | -1.921 | Destabilizing | 0.999 | D | 0.55 | neutral | N | 0.465020503 | None | None | N |
| A/H | 0.9936 | likely_pathogenic | 0.9936 | pathogenic | -2.06 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| A/I | 0.7989 | likely_pathogenic | 0.7795 | pathogenic | -0.288 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| A/K | 0.9978 | likely_pathogenic | 0.9975 | pathogenic | -1.207 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| A/L | 0.6822 | likely_pathogenic | 0.6573 | pathogenic | -0.288 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| A/M | 0.8594 | likely_pathogenic | 0.8574 | pathogenic | -0.789 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| A/N | 0.978 | likely_pathogenic | 0.9767 | pathogenic | -1.672 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| A/P | 0.7942 | likely_pathogenic | 0.8162 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.499228532 | None | None | N |
| A/Q | 0.9842 | likely_pathogenic | 0.9825 | pathogenic | -1.402 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| A/R | 0.9902 | likely_pathogenic | 0.9893 | pathogenic | -1.375 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| A/S | 0.337 | likely_benign | 0.3423 | ambiguous | -1.996 | Destabilizing | 0.999 | D | 0.585 | neutral | N | 0.462956588 | None | None | N |
| A/T | 0.6264 | likely_pathogenic | 0.638 | pathogenic | -1.66 | Destabilizing | 1.0 | D | 0.728 | deleterious | N | 0.493801283 | None | None | N |
| A/V | 0.5687 | likely_pathogenic | 0.543 | ambiguous | -0.654 | Destabilizing | 0.999 | D | 0.655 | prob.neutral | N | 0.498591027 | None | None | N |
| A/W | 0.9974 | likely_pathogenic | 0.9976 | pathogenic | -1.368 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| A/Y | 0.9869 | likely_pathogenic | 0.988 | pathogenic | -0.985 | Destabilizing | 1.0 | D | 0.851 | 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.