Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19224 | 57895;57896;57897 | chr2:178595684;178595683;178595682 | chr2:179460411;179460410;179460409 |
| N2AB | 17583 | 52972;52973;52974 | chr2:178595684;178595683;178595682 | chr2:179460411;179460410;179460409 |
| N2A | 16656 | 50191;50192;50193 | chr2:178595684;178595683;178595682 | chr2:179460411;179460410;179460409 |
| N2B | 10159 | 30700;30701;30702 | chr2:178595684;178595683;178595682 | chr2:179460411;179460410;179460409 |
| Novex-1 | 10284 | 31075;31076;31077 | chr2:178595684;178595683;178595682 | chr2:179460411;179460410;179460409 |
| Novex-2 | 10351 | 31276;31277;31278 | chr2:178595684;178595683;178595682 | chr2:179460411;179460410;179460409 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs746014932  |
-1.892 | 1.0 | N | 0.907 | 0.462 | 0.604474940213 | gnomAD-2.1.1 | 4.17E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.23E-06 | 0 |
| R/C | rs746014932 |
-1.892 | 1.0 | N | 0.907 | 0.462 | 0.604474940213 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 2.42E-05 | 1.31148E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/C | rs746014932 |
-1.892 | 1.0 | N | 0.907 | 0.462 | 0.604474940213 | gnomAD-4.0.0 | 1.30575E-05 | None | None | None | None | N | None | 4.01027E-05 | 5.05034E-05 | None | 0 | 0 | None | 0 | 0 | 1.10408E-05 | 0 | 3.21048E-05 |
| R/H | rs779279322 |
-2.944 | 1.0 | N | 0.726 | 0.539 | None | gnomAD-2.1.1 | 2.21E-05 | None | None | None | None | N | None | 8.52E-05 | 0 | None | 0 | 1.06758E-04 | None | 3.45E-05 | None | 0 | 8.07E-06 | 0 |
| R/H | rs779279322 |
-2.944 | 1.0 | N | 0.726 | 0.539 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 9.66E-05 | 0 | 0 | 0 | 3.885E-04 | None | 0 | 0 | 0 | 0 | 0 |
| R/H | rs779279322 |
-2.944 | 1.0 | N | 0.726 | 0.539 | None | gnomAD-4.0.0 | 2.79795E-05 | None | None | None | None | N | None | 5.34616E-05 | 5.04999E-05 | None | 0 | 9.00171E-05 | None | 0 | 0 | 2.71771E-05 | 1.11431E-05 | 1.60524E-05 |
| R/L | None | None | 1.0 | N | 0.743 | 0.479 | 0.647476214077 | gnomAD-4.0.0 | 6.86645E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01315E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9815 | likely_pathogenic | 0.99 | pathogenic | -2.286 | Highly Destabilizing | 0.999 | D | 0.507 | neutral | None | None | None | None | N |
| R/C | 0.6981 | likely_pathogenic | 0.834 | pathogenic | -2.009 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | N | 0.47433498 | None | None | N |
| R/D | 0.9983 | likely_pathogenic | 0.9989 | pathogenic | -0.761 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| R/E | 0.9696 | likely_pathogenic | 0.9814 | pathogenic | -0.552 | Destabilizing | 0.999 | D | 0.473 | neutral | None | None | None | None | N |
| R/F | 0.9857 | likely_pathogenic | 0.9915 | pathogenic | -1.604 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| R/G | 0.972 | likely_pathogenic | 0.9822 | pathogenic | -2.613 | Highly Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.487248221 | None | None | N |
| R/H | 0.6669 | likely_pathogenic | 0.7737 | pathogenic | -2.306 | Highly Destabilizing | 1.0 | D | 0.726 | prob.delet. | N | 0.497465665 | None | None | N |
| R/I | 0.9695 | likely_pathogenic | 0.9857 | pathogenic | -1.327 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| R/K | 0.3199 | likely_benign | 0.4333 | ambiguous | -1.308 | Destabilizing | 0.998 | D | 0.453 | neutral | None | None | None | None | N |
| R/L | 0.9092 | likely_pathogenic | 0.9562 | pathogenic | -1.327 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.477106457 | None | None | N |
| R/M | 0.8997 | likely_pathogenic | 0.9569 | pathogenic | -1.726 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| R/N | 0.9931 | likely_pathogenic | 0.9958 | pathogenic | -1.193 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| R/P | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -1.638 | Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.523710221 | None | None | N |
| R/Q | 0.4388 | ambiguous | 0.5962 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | N |
| R/S | 0.9938 | likely_pathogenic | 0.9964 | pathogenic | -2.264 | Highly Destabilizing | 1.0 | D | 0.726 | prob.delet. | N | 0.466760429 | None | None | N |
| R/T | 0.9854 | likely_pathogenic | 0.993 | pathogenic | -1.843 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| R/V | 0.9715 | likely_pathogenic | 0.9852 | pathogenic | -1.638 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| R/W | 0.8566 | likely_pathogenic | 0.9174 | pathogenic | -0.99 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| R/Y | 0.9547 | likely_pathogenic | 0.9735 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.907 | 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.