Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21663 | 65212;65213;65214 | chr2:178584564;178584563;178584562 | chr2:179449291;179449290;179449289 |
| N2AB | 20022 | 60289;60290;60291 | chr2:178584564;178584563;178584562 | chr2:179449291;179449290;179449289 |
| N2A | 19095 | 57508;57509;57510 | chr2:178584564;178584563;178584562 | chr2:179449291;179449290;179449289 |
| N2B | 12598 | 38017;38018;38019 | chr2:178584564;178584563;178584562 | chr2:179449291;179449290;179449289 |
| Novex-1 | 12723 | 38392;38393;38394 | chr2:178584564;178584563;178584562 | chr2:179449291;179449290;179449289 |
| Novex-2 | 12790 | 38593;38594;38595 | chr2:178584564;178584563;178584562 | chr2:179449291;179449290;179449289 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs779613133  |
-2.884 | 1.0 | D | 0.878 | 0.681 | 0.595871345579 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 1.78E-05 | 0 |
| P/S | rs779613133 |
-2.884 | 1.0 | D | 0.878 | 0.681 | 0.595871345579 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 4.78011E-04 |
| P/S | rs779613133 |
-2.884 | 1.0 | D | 0.878 | 0.681 | 0.595871345579 | gnomAD-4.0.0 | 1.61294E-05 | None | None | None | None | N | None | 0 | 1.66984E-05 | None | 0 | 0 | None | 0 | 0 | 1.78155E-05 | 2.19998E-05 | 3.20544E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9006 | likely_pathogenic | 0.913 | pathogenic | -2.308 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.536738135 | None | None | N |
| P/C | 0.992 | likely_pathogenic | 0.9918 | pathogenic | -2.388 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| P/D | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -3.497 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| P/E | 0.9973 | likely_pathogenic | 0.9976 | pathogenic | -3.286 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/F | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -1.092 | Destabilizing | 1.0 | D | 0.931 | deleterious | None | None | None | None | N |
| P/G | 0.9919 | likely_pathogenic | 0.9913 | pathogenic | -2.777 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| P/H | 0.9981 | likely_pathogenic | 0.9979 | pathogenic | -2.263 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| P/I | 0.9742 | likely_pathogenic | 0.9808 | pathogenic | -0.981 | Destabilizing | 1.0 | D | 0.939 | deleterious | None | None | None | None | N |
| P/K | 0.9982 | likely_pathogenic | 0.9982 | pathogenic | -1.88 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/L | 0.9629 | likely_pathogenic | 0.9602 | pathogenic | -0.981 | Destabilizing | 1.0 | D | 0.925 | deleterious | D | 0.558854862 | None | None | N |
| P/M | 0.9921 | likely_pathogenic | 0.9928 | pathogenic | -1.473 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/N | 0.9985 | likely_pathogenic | 0.9987 | pathogenic | -2.372 | Highly Destabilizing | 1.0 | D | 0.939 | deleterious | None | None | None | None | N |
| P/Q | 0.9961 | likely_pathogenic | 0.9963 | pathogenic | -2.214 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | D | 0.560629288 | None | None | N |
| P/R | 0.9953 | likely_pathogenic | 0.9947 | pathogenic | -1.68 | Destabilizing | 1.0 | D | 0.938 | deleterious | D | 0.560122309 | None | None | N |
| P/S | 0.9922 | likely_pathogenic | 0.9938 | pathogenic | -2.844 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | D | 0.560375799 | None | None | N |
| P/T | 0.9765 | likely_pathogenic | 0.9822 | pathogenic | -2.51 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.55961533 | None | None | N |
| P/V | 0.9298 | likely_pathogenic | 0.9475 | pathogenic | -1.403 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.565 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| P/Y | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.937 | 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.