Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19880 | 59863;59864;59865 | chr2:178592266;178592265;178592264 | chr2:179456993;179456992;179456991 |
| N2AB | 18239 | 54940;54941;54942 | chr2:178592266;178592265;178592264 | chr2:179456993;179456992;179456991 |
| N2A | 17312 | 52159;52160;52161 | chr2:178592266;178592265;178592264 | chr2:179456993;179456992;179456991 |
| N2B | 10815 | 32668;32669;32670 | chr2:178592266;178592265;178592264 | chr2:179456993;179456992;179456991 |
| Novex-1 | 10940 | 33043;33044;33045 | chr2:178592266;178592265;178592264 | chr2:179456993;179456992;179456991 |
| Novex-2 | 11007 | 33244;33245;33246 | chr2:178592266;178592265;178592264 | chr2:179456993;179456992;179456991 |
| 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 | rs778795921  |
-1.502 | 1.0 | N | 0.823 | 0.454 | 0.445007932271 | gnomAD-2.1.1 | 8.26E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.79E-05 | None | 0 | 0 | 0 |
| P/S | rs778795921 |
-1.502 | 1.0 | N | 0.823 | 0.454 | 0.445007932271 | gnomAD-4.0.0 | 6.17335E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 9.38064E-05 | 1.66141E-05 |
| P/T | None | None | 1.0 | D | 0.828 | 0.463 | 0.54626238531 | gnomAD-4.0.0 | 1.37185E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80065E-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 | 0.0915 | likely_benign | 0.0942 | benign | -1.621 | Destabilizing | 1.0 | D | 0.818 | deleterious | N | 0.494137718 | None | None | N |
| P/C | 0.5402 | ambiguous | 0.5658 | pathogenic | -0.967 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/D | 0.7917 | likely_pathogenic | 0.8243 | pathogenic | -1.718 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| P/E | 0.4552 | ambiguous | 0.5131 | ambiguous | -1.735 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/F | 0.5587 | ambiguous | 0.5873 | pathogenic | -1.293 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| P/G | 0.5309 | ambiguous | 0.5705 | pathogenic | -1.923 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| P/H | 0.3783 | ambiguous | 0.4096 | ambiguous | -1.492 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/I | 0.3203 | likely_benign | 0.3643 | ambiguous | -0.886 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/K | 0.4081 | ambiguous | 0.4637 | ambiguous | -1.419 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/L | 0.177 | likely_benign | 0.1976 | benign | -0.886 | Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.523154016 | None | None | N |
| P/M | 0.345 | ambiguous | 0.3741 | ambiguous | -0.597 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/N | 0.6242 | likely_pathogenic | 0.657 | pathogenic | -1.144 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/Q | 0.2385 | likely_benign | 0.2749 | benign | -1.365 | Destabilizing | 1.0 | D | 0.856 | deleterious | N | 0.510023284 | None | None | N |
| P/R | 0.2899 | likely_benign | 0.3462 | ambiguous | -0.817 | Destabilizing | 1.0 | D | 0.902 | deleterious | N | 0.497198948 | None | None | N |
| P/S | 0.2138 | likely_benign | 0.2294 | benign | -1.591 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.485905095 | None | None | N |
| P/T | 0.2109 | likely_benign | 0.2392 | benign | -1.515 | Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.522647037 | None | None | N |
| P/V | 0.2341 | likely_benign | 0.2707 | benign | -1.098 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| P/W | 0.8213 | likely_pathogenic | 0.8411 | pathogenic | -1.479 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/Y | 0.6333 | likely_pathogenic | 0.6554 | pathogenic | -1.232 | Destabilizing | 1.0 | D | 0.909 | 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.