Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7556 | 22891;22892;22893 | chr2:178721997;178721996;178721995 | chr2:179586724;179586723;179586722 |
| N2AB | 7239 | 21940;21941;21942 | chr2:178721997;178721996;178721995 | chr2:179586724;179586723;179586722 |
| N2A | 6312 | 19159;19160;19161 | chr2:178721997;178721996;178721995 | chr2:179586724;179586723;179586722 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs754885396  |
-0.215 | 0.999 | N | 0.315 | 0.401 | 0.60023526351 | gnomAD-2.1.1 | 8.93E-05 | None | None | None | None | N | None | 2.06731E-04 | 4.81859E-04 | None | 0 | 5.13E-05 | None | 0 | None | 0 | 7.81E-06 | 1.40687E-04 |
| R/C | rs754885396 |
-0.215 | 0.999 | N | 0.315 | 0.401 | 0.60023526351 | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 1.93162E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/C | rs754885396 |
-0.215 | 0.999 | N | 0.315 | 0.401 | 0.60023526351 | gnomAD-4.0.0 | 2.5413E-05 | None | None | None | None | N | None | 1.60286E-04 | 3.50198E-04 | None | 0 | 2.22886E-05 | None | 0 | 0 | 4.23883E-06 | 1.09827E-05 | 1.60159E-05 |
| R/G | None | None | 0.839 | N | 0.371 | 0.261 | 0.519079548728 | gnomAD-4.0.0 | 6.84332E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.1598E-05 | 0 |
| R/H | rs374344734 |
-0.799 | 0.99 | N | 0.347 | 0.23 | None | gnomAD-2.1.1 | 9.63E-05 | None | None | None | None | N | None | 3.30797E-04 | 2.83E-05 | None | 0 | 5.12E-05 | None | 4.25059E-04 | None | 0 | 2.34E-05 | 1.40489E-04 |
| R/H | rs374344734 |
-0.799 | 0.99 | N | 0.347 | 0.23 | None | gnomAD-3.1.2 | 9.2E-05 | None | None | None | None | N | None | 2.41336E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 6.21633E-04 | 0 |
| R/H | rs374344734 |
-0.799 | 0.99 | N | 0.347 | 0.23 | None | gnomAD-4.0.0 | 6.50793E-05 | None | None | None | None | N | None | 3.07117E-04 | 1.66717E-05 | None | 0 | 0 | None | 0 | 1.64636E-04 | 1.78027E-05 | 6.25961E-04 | 3.20318E-05 |
| R/L | rs374344734 |
0.361 | 0.308 | N | 0.354 | 0.277 | 0.412064437402 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 0 | 0 |
| R/L | rs374344734 |
0.361 | 0.308 | N | 0.354 | 0.277 | 0.412064437402 | gnomAD-4.0.0 | 1.36865E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.74546E-05 | 0 | 0 | 0 | 0 |
| R/S | rs754885396 |
-0.172 | 0.722 | N | 0.387 | 0.273 | 0.33110744837 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| R/S | rs754885396 |
-0.172 | 0.722 | N | 0.387 | 0.273 | 0.33110744837 | gnomAD-4.0.0 | 2.05299E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69886E-06 | 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 | 0.829 | likely_pathogenic | 0.7533 | pathogenic | 0.123 | Stabilizing | 0.528 | D | 0.367 | neutral | None | None | None | None | N |
| R/C | 0.4466 | ambiguous | 0.3739 | ambiguous | -0.185 | Destabilizing | 0.999 | D | 0.315 | neutral | N | 0.494419423 | None | None | N |
| R/D | 0.9571 | likely_pathogenic | 0.9356 | pathogenic | -0.319 | Destabilizing | 0.905 | D | 0.323 | neutral | None | None | None | None | N |
| R/E | 0.8215 | likely_pathogenic | 0.7615 | pathogenic | -0.268 | Destabilizing | 0.289 | N | 0.323 | neutral | None | None | None | None | N |
| R/F | 0.7595 | likely_pathogenic | 0.6997 | pathogenic | -0.16 | Destabilizing | 0.885 | D | 0.335 | neutral | None | None | None | None | N |
| R/G | 0.7094 | likely_pathogenic | 0.6177 | pathogenic | -0.032 | Destabilizing | 0.839 | D | 0.371 | neutral | N | 0.478110338 | None | None | N |
| R/H | 0.1804 | likely_benign | 0.1594 | benign | -0.579 | Destabilizing | 0.99 | D | 0.347 | neutral | N | 0.498581611 | None | None | N |
| R/I | 0.5478 | ambiguous | 0.4417 | ambiguous | 0.49 | Stabilizing | 0.015 | N | 0.294 | neutral | None | None | None | None | N |
| R/K | 0.1863 | likely_benign | 0.1602 | benign | -0.099 | Destabilizing | 0.001 | N | 0.271 | neutral | None | None | None | None | N |
| R/L | 0.4821 | ambiguous | 0.4089 | ambiguous | 0.49 | Stabilizing | 0.308 | N | 0.354 | neutral | N | 0.453598683 | None | None | N |
| R/M | 0.6524 | likely_pathogenic | 0.5447 | ambiguous | -0.034 | Destabilizing | 0.889 | D | 0.342 | neutral | None | None | None | None | N |
| R/N | 0.9053 | likely_pathogenic | 0.8648 | pathogenic | -0.035 | Destabilizing | 0.73 | D | 0.341 | neutral | None | None | None | None | N |
| R/P | 0.815 | likely_pathogenic | 0.7592 | pathogenic | 0.387 | Stabilizing | 0.974 | D | 0.331 | neutral | N | 0.399822913 | None | None | N |
| R/Q | 0.2258 | likely_benign | 0.1856 | benign | -0.049 | Destabilizing | 0.875 | D | 0.336 | neutral | None | None | None | None | N |
| R/S | 0.8531 | likely_pathogenic | 0.8004 | pathogenic | -0.176 | Destabilizing | 0.722 | D | 0.387 | neutral | N | 0.433818057 | None | None | N |
| R/T | 0.706 | likely_pathogenic | 0.6034 | pathogenic | -0.013 | Destabilizing | 0.035 | N | 0.249 | neutral | None | None | None | None | N |
| R/V | 0.6668 | likely_pathogenic | 0.5772 | pathogenic | 0.387 | Stabilizing | 0.011 | N | 0.255 | neutral | None | None | None | None | N |
| R/W | 0.3105 | likely_benign | 0.2744 | benign | -0.351 | Destabilizing | 0.997 | D | 0.356 | neutral | None | None | None | None | N |
| R/Y | 0.6214 | likely_pathogenic | 0.5728 | pathogenic | 0.062 | Stabilizing | 0.959 | D | 0.331 | 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.