Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32197 | 96814;96815;96816 | chr2:178543384;178543383;178543382 | chr2:179408111;179408110;179408109 |
| N2AB | 30556 | 91891;91892;91893 | chr2:178543384;178543383;178543382 | chr2:179408111;179408110;179408109 |
| N2A | 29629 | 89110;89111;89112 | chr2:178543384;178543383;178543382 | chr2:179408111;179408110;179408109 |
| N2B | 23132 | 69619;69620;69621 | chr2:178543384;178543383;178543382 | chr2:179408111;179408110;179408109 |
| Novex-1 | 23257 | 69994;69995;69996 | chr2:178543384;178543383;178543382 | chr2:179408111;179408110;179408109 |
| Novex-2 | 23324 | 70195;70196;70197 | chr2:178543384;178543383;178543382 | chr2:179408111;179408110;179408109 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | None | None | 0.008 | N | 0.261 | 0.068 | 0.293147016451 | gnomAD-4.0.0 | 6.84189E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99452E-07 | 0 | 0 |
| V/L | rs1296702975  |
-0.258 | 0.343 | N | 0.589 | 0.248 | 0.279370189704 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/L | rs1296702975 |
-0.258 | 0.343 | N | 0.589 | 0.248 | 0.279370189704 | gnomAD-4.0.0 | 4.10514E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51965E-05 | None | 0 | 0 | 0 | 4.63725E-05 | 1.65656E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4214 | ambiguous | 0.3735 | ambiguous | -1.711 | Destabilizing | 0.942 | D | 0.603 | neutral | N | 0.484314344 | None | None | N |
| V/C | 0.8032 | likely_pathogenic | 0.7942 | pathogenic | -0.959 | Destabilizing | 0.999 | D | 0.83 | deleterious | None | None | None | None | N |
| V/D | 0.9142 | likely_pathogenic | 0.8895 | pathogenic | -2.253 | Highly Destabilizing | 0.999 | D | 0.882 | deleterious | None | None | None | None | N |
| V/E | 0.7355 | likely_pathogenic | 0.7049 | pathogenic | -2.028 | Highly Destabilizing | 0.993 | D | 0.887 | deleterious | N | 0.514370789 | None | None | N |
| V/F | 0.3333 | likely_benign | 0.2867 | benign | -1.089 | Destabilizing | 0.993 | D | 0.873 | deleterious | None | None | None | None | N |
| V/G | 0.6796 | likely_pathogenic | 0.6363 | pathogenic | -2.209 | Highly Destabilizing | 0.999 | D | 0.883 | deleterious | N | 0.514877768 | None | None | N |
| V/H | 0.8538 | likely_pathogenic | 0.8283 | pathogenic | -1.843 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| V/I | 0.0778 | likely_benign | 0.0761 | benign | -0.322 | Destabilizing | 0.008 | N | 0.261 | neutral | N | 0.472050292 | None | None | N |
| V/K | 0.7373 | likely_pathogenic | 0.7151 | pathogenic | -1.325 | Destabilizing | 0.993 | D | 0.895 | deleterious | None | None | None | None | N |
| V/L | 0.2601 | likely_benign | 0.2551 | benign | -0.322 | Destabilizing | 0.343 | N | 0.589 | neutral | N | 0.473514243 | None | None | N |
| V/M | 0.2057 | likely_benign | 0.1938 | benign | -0.239 | Destabilizing | 0.99 | D | 0.771 | deleterious | None | None | None | None | N |
| V/N | 0.7878 | likely_pathogenic | 0.7368 | pathogenic | -1.707 | Destabilizing | 0.984 | D | 0.889 | deleterious | None | None | None | None | N |
| V/P | 0.96 | likely_pathogenic | 0.95 | pathogenic | -0.76 | Destabilizing | 0.984 | D | 0.897 | deleterious | None | None | None | None | N |
| V/Q | 0.6618 | likely_pathogenic | 0.638 | pathogenic | -1.548 | Destabilizing | 0.997 | D | 0.901 | deleterious | None | None | None | None | N |
| V/R | 0.7037 | likely_pathogenic | 0.6795 | pathogenic | -1.226 | Destabilizing | 0.999 | D | 0.881 | deleterious | None | None | None | None | N |
| V/S | 0.6047 | likely_pathogenic | 0.5337 | ambiguous | -2.267 | Highly Destabilizing | 0.994 | D | 0.89 | deleterious | None | None | None | None | N |
| V/T | 0.3538 | ambiguous | 0.3179 | benign | -1.896 | Destabilizing | 0.897 | D | 0.749 | deleterious | None | None | None | None | N |
| V/W | 0.9377 | likely_pathogenic | 0.9229 | pathogenic | -1.565 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| V/Y | 0.7925 | likely_pathogenic | 0.7453 | pathogenic | -1.11 | Destabilizing | 0.999 | D | 0.86 | 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.