Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20672 | 62239;62240;62241 | chr2:178589711;178589710;178589709 | chr2:179454438;179454437;179454436 |
| N2AB | 19031 | 57316;57317;57318 | chr2:178589711;178589710;178589709 | chr2:179454438;179454437;179454436 |
| N2A | 18104 | 54535;54536;54537 | chr2:178589711;178589710;178589709 | chr2:179454438;179454437;179454436 |
| N2B | 11607 | 35044;35045;35046 | chr2:178589711;178589710;178589709 | chr2:179454438;179454437;179454436 |
| Novex-1 | 11732 | 35419;35420;35421 | chr2:178589711;178589710;178589709 | chr2:179454438;179454437;179454436 |
| Novex-2 | 11799 | 35620;35621;35622 | chr2:178589711;178589710;178589709 | chr2:179454438;179454437;179454436 |
| 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/A | rs1356638813  |
-2.579 | 1.0 | D | 0.802 | 0.602 | 0.597069159472 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs1356638813 |
-2.579 | 1.0 | D | 0.802 | 0.602 | 0.597069159472 | gnomAD-4.0.0 | 1.36861E-06 | None | None | None | None | N | None | 0 | 2.23624E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65684E-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 | 0.9087 | likely_pathogenic | 0.8563 | pathogenic | -2.401 | Highly Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.536738135 | None | None | N |
| P/C | 0.9937 | likely_pathogenic | 0.9843 | pathogenic | -2.255 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/D | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -3.377 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/E | 0.9988 | likely_pathogenic | 0.9979 | pathogenic | -3.123 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| P/F | 0.9997 | likely_pathogenic | 0.9994 | pathogenic | -1.11 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| P/G | 0.9957 | likely_pathogenic | 0.9938 | pathogenic | -2.919 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/H | 0.9993 | likely_pathogenic | 0.9987 | pathogenic | -2.498 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.549108399 | None | None | N |
| P/I | 0.9572 | likely_pathogenic | 0.9219 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| P/K | 0.9991 | likely_pathogenic | 0.9986 | pathogenic | -1.833 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/L | 0.9654 | likely_pathogenic | 0.9442 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.547333972 | None | None | N |
| P/M | 0.992 | likely_pathogenic | 0.9855 | pathogenic | -1.441 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/N | 0.9993 | likely_pathogenic | 0.9989 | pathogenic | -2.352 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/Q | 0.9986 | likely_pathogenic | 0.9975 | pathogenic | -2.116 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| P/R | 0.9979 | likely_pathogenic | 0.9968 | pathogenic | -1.751 | Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.54860142 | None | None | N |
| P/S | 0.9962 | likely_pathogenic | 0.9931 | pathogenic | -2.861 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.537498604 | None | None | N |
| P/T | 0.9793 | likely_pathogenic | 0.9585 | pathogenic | -2.474 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.536738135 | None | None | N |
| P/V | 0.8752 | likely_pathogenic | 0.805 | pathogenic | -1.39 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.602 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/Y | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -1.371 | Destabilizing | 1.0 | D | 0.895 | 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.