Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7795 | 23608;23609;23610 | chr2:178720259;178720258;178720257 | chr2:179584986;179584985;179584984 |
| N2AB | 7478 | 22657;22658;22659 | chr2:178720259;178720258;178720257 | chr2:179584986;179584985;179584984 |
| N2A | 6551 | 19876;19877;19878 | chr2:178720259;178720258;178720257 | chr2:179584986;179584985;179584984 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | 1.0 | D | 0.884 | 0.717 | 0.898999087379 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| P/S | rs1164633288  |
-2.287 | 1.0 | D | 0.888 | 0.799 | 0.699004069071 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 2.92E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs1164633288 |
-2.287 | 1.0 | D | 0.888 | 0.799 | 0.699004069071 | gnomAD-4.0.0 | 3.21027E-06 | None | None | None | None | N | None | 0 | 2.30574E-05 | None | 0 | 0 | None | 0 | 0 | 2.88719E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7477 | likely_pathogenic | 0.6364 | pathogenic | -1.878 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.649515881 | None | None | N |
| P/C | 0.9919 | likely_pathogenic | 0.9864 | pathogenic | -1.408 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/D | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -2.544 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/E | 0.9976 | likely_pathogenic | 0.9973 | pathogenic | -2.369 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/F | 0.9991 | likely_pathogenic | 0.9986 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| P/G | 0.9887 | likely_pathogenic | 0.9833 | pathogenic | -2.372 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| P/H | 0.9977 | likely_pathogenic | 0.9969 | pathogenic | -2.192 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| P/I | 0.9788 | likely_pathogenic | 0.9721 | pathogenic | -0.522 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| P/K | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -1.563 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| P/L | 0.9372 | likely_pathogenic | 0.9054 | pathogenic | -0.522 | Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.617648603 | None | None | N |
| P/M | 0.993 | likely_pathogenic | 0.9897 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/N | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -1.76 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| P/Q | 0.9949 | likely_pathogenic | 0.9934 | pathogenic | -1.674 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.650121293 | None | None | N |
| P/R | 0.9951 | likely_pathogenic | 0.9944 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.888 | deleterious | D | 0.650121293 | None | None | N |
| P/S | 0.9768 | likely_pathogenic | 0.9643 | pathogenic | -2.321 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | D | 0.649717685 | None | None | N |
| P/T | 0.9742 | likely_pathogenic | 0.9632 | pathogenic | -2.018 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.649919489 | None | None | N |
| P/V | 0.9399 | likely_pathogenic | 0.918 | pathogenic | -0.945 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.652 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/Y | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -1.254 | Destabilizing | 1.0 | D | 0.885 | 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.