Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24240 | 72943;72944;72945 | chr2:178573414;178573413;178573412 | chr2:179438141;179438140;179438139 |
| N2AB | 22599 | 68020;68021;68022 | chr2:178573414;178573413;178573412 | chr2:179438141;179438140;179438139 |
| N2A | 21672 | 65239;65240;65241 | chr2:178573414;178573413;178573412 | chr2:179438141;179438140;179438139 |
| N2B | 15175 | 45748;45749;45750 | chr2:178573414;178573413;178573412 | chr2:179438141;179438140;179438139 |
| Novex-1 | 15300 | 46123;46124;46125 | chr2:178573414;178573413;178573412 | chr2:179438141;179438140;179438139 |
| Novex-2 | 15367 | 46324;46325;46326 | chr2:178573414;178573413;178573412 | chr2:179438141;179438140;179438139 |
| 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/A | None | None | 0.349 | N | 0.452 | 0.213 | 0.561790411231 | gnomAD-4.0.0 | 1.86794E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.2568E-06 | 0 | 0 |
| V/F | rs1345256615  |
-1.403 | 0.901 | N | 0.641 | 0.283 | 0.672922844732 | gnomAD-2.1.1 | 5.69E-06 | None | None | None | None | N | None | 0 | 4.88E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/F | rs1345256615 |
-1.403 | 0.901 | N | 0.641 | 0.283 | 0.672922844732 | gnomAD-4.0.0 | 1.87268E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.26392E-06 | 0 | 0 |
| V/I | rs1345256615 |
-0.738 | 0.008 | N | 0.224 | 0.038 | 0.417843521124 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14863E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs1345256615 |
-0.738 | 0.008 | N | 0.224 | 0.038 | 0.417843521124 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4023 | ambiguous | 0.3125 | benign | -1.756 | Destabilizing | 0.349 | N | 0.452 | neutral | N | 0.466862561 | None | None | N |
| V/C | 0.9069 | likely_pathogenic | 0.8721 | pathogenic | -1.39 | Destabilizing | 0.996 | D | 0.66 | neutral | None | None | None | None | N |
| V/D | 0.8537 | likely_pathogenic | 0.7671 | pathogenic | -2.09 | Highly Destabilizing | 0.901 | D | 0.756 | deleterious | N | 0.519463024 | None | None | N |
| V/E | 0.7951 | likely_pathogenic | 0.7037 | pathogenic | -2.056 | Highly Destabilizing | 0.923 | D | 0.685 | prob.neutral | None | None | None | None | N |
| V/F | 0.4139 | ambiguous | 0.3367 | benign | -1.307 | Destabilizing | 0.901 | D | 0.641 | neutral | N | 0.482777997 | None | None | N |
| V/G | 0.6428 | likely_pathogenic | 0.5497 | ambiguous | -2.104 | Highly Destabilizing | 0.901 | D | 0.697 | prob.neutral | N | 0.488373857 | None | None | N |
| V/H | 0.9003 | likely_pathogenic | 0.8416 | pathogenic | -1.619 | Destabilizing | 0.996 | D | 0.776 | deleterious | None | None | None | None | N |
| V/I | 0.0787 | likely_benign | 0.0718 | benign | -0.871 | Destabilizing | 0.008 | N | 0.224 | neutral | N | 0.47628825 | None | None | N |
| V/K | 0.8851 | likely_pathogenic | 0.8345 | pathogenic | -1.468 | Destabilizing | 0.923 | D | 0.693 | prob.neutral | None | None | None | None | N |
| V/L | 0.3462 | ambiguous | 0.2844 | benign | -0.871 | Destabilizing | 0.156 | N | 0.409 | neutral | N | 0.516268003 | None | None | N |
| V/M | 0.2365 | likely_benign | 0.192 | benign | -0.771 | Destabilizing | 0.923 | D | 0.523 | neutral | None | None | None | None | N |
| V/N | 0.674 | likely_pathogenic | 0.5273 | ambiguous | -1.394 | Destabilizing | 0.923 | D | 0.778 | deleterious | None | None | None | None | N |
| V/P | 0.977 | likely_pathogenic | 0.9664 | pathogenic | -1.134 | Destabilizing | 0.961 | D | 0.717 | prob.delet. | None | None | None | None | N |
| V/Q | 0.7939 | likely_pathogenic | 0.7122 | pathogenic | -1.558 | Destabilizing | 0.961 | D | 0.738 | prob.delet. | None | None | None | None | N |
| V/R | 0.847 | likely_pathogenic | 0.7885 | pathogenic | -0.955 | Destabilizing | 0.923 | D | 0.785 | deleterious | None | None | None | None | N |
| V/S | 0.517 | ambiguous | 0.3952 | ambiguous | -1.915 | Destabilizing | 0.633 | D | 0.615 | neutral | None | None | None | None | N |
| V/T | 0.2502 | likely_benign | 0.1913 | benign | -1.776 | Destabilizing | 0.011 | N | 0.245 | neutral | None | None | None | None | N |
| V/W | 0.9437 | likely_pathogenic | 0.9163 | pathogenic | -1.551 | Destabilizing | 0.996 | D | 0.733 | prob.delet. | None | None | None | None | N |
| V/Y | 0.8271 | likely_pathogenic | 0.7539 | pathogenic | -1.259 | Destabilizing | 0.961 | D | 0.664 | 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.