Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22355 | 67288;67289;67290 | chr2:178580224;178580223;178580222 | chr2:179444951;179444950;179444949 |
| N2AB | 20714 | 62365;62366;62367 | chr2:178580224;178580223;178580222 | chr2:179444951;179444950;179444949 |
| N2A | 19787 | 59584;59585;59586 | chr2:178580224;178580223;178580222 | chr2:179444951;179444950;179444949 |
| N2B | 13290 | 40093;40094;40095 | chr2:178580224;178580223;178580222 | chr2:179444951;179444950;179444949 |
| Novex-1 | 13415 | 40468;40469;40470 | chr2:178580224;178580223;178580222 | chr2:179444951;179444950;179444949 |
| Novex-2 | 13482 | 40669;40670;40671 | chr2:178580224;178580223;178580222 | chr2:179444951;179444950;179444949 |
| 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 | rs794729481  |
-1.84 | 0.914 | D | 0.695 | 0.757 | 0.724598645136 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 2.92E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs794729481 |
-1.84 | 0.914 | D | 0.695 | 0.757 | 0.724598645136 | gnomAD-4.0.0 | 6.84929E-07 | None | None | None | None | N | None | 0 | 2.24487E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs794729481 |
-2.415 | 0.987 | D | 0.733 | 0.768 | None | gnomAD-2.1.1 | 2.43E-05 | None | None | None | None | N | None | 0 | 0 | None | 3.99441E-04 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| P/S | rs794729481 |
-2.415 | 0.987 | D | 0.733 | 0.768 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 5.76701E-04 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs794729481 |
-2.415 | 0.987 | D | 0.733 | 0.768 | None | gnomAD-4.0.0 | 7.44396E-06 | None | None | None | None | N | None | 0 | 0 | None | 2.70599E-04 | 0 | None | 0 | 0 | 8.47971E-07 | 0 | 4.81062E-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 | 0.8719 | likely_pathogenic | 0.8407 | pathogenic | -1.495 | Destabilizing | 0.914 | D | 0.695 | prob.delet. | D | 0.656970126 | None | None | N |
| P/C | 0.9935 | likely_pathogenic | 0.9898 | pathogenic | -1.891 | Destabilizing | 0.999 | D | 0.807 | deleterious | None | None | None | None | N |
| P/D | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -3.327 | Highly Destabilizing | 0.997 | D | 0.804 | deleterious | None | None | None | None | N |
| P/E | 0.9988 | likely_pathogenic | 0.9991 | pathogenic | -3.261 | Highly Destabilizing | 0.99 | D | 0.776 | deleterious | None | None | None | None | N |
| P/F | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.033 | Destabilizing | 0.995 | D | 0.817 | deleterious | None | None | None | None | N |
| P/G | 0.9955 | likely_pathogenic | 0.9947 | pathogenic | -1.82 | Destabilizing | 0.99 | D | 0.799 | deleterious | None | None | None | None | N |
| P/H | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -1.297 | Destabilizing | 0.999 | D | 0.813 | deleterious | D | 0.68961426 | None | None | N |
| P/I | 0.9964 | likely_pathogenic | 0.9964 | pathogenic | -0.652 | Destabilizing | 0.961 | D | 0.801 | deleterious | None | None | None | None | N |
| P/K | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -1.452 | Destabilizing | 0.99 | D | 0.764 | deleterious | None | None | None | None | N |
| P/L | 0.9884 | likely_pathogenic | 0.9892 | pathogenic | -0.652 | Destabilizing | 0.071 | N | 0.669 | prob.neutral | D | 0.652033947 | None | None | N |
| P/M | 0.9983 | likely_pathogenic | 0.998 | pathogenic | -0.905 | Destabilizing | 0.995 | D | 0.841 | deleterious | None | None | None | None | N |
| P/N | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.785 | Destabilizing | 0.997 | D | 0.829 | deleterious | None | None | None | None | N |
| P/Q | 0.9982 | likely_pathogenic | 0.9983 | pathogenic | -1.925 | Destabilizing | 0.997 | D | 0.811 | deleterious | None | None | None | None | N |
| P/R | 0.997 | likely_pathogenic | 0.9979 | pathogenic | -1.005 | Destabilizing | 0.987 | D | 0.828 | deleterious | D | 0.689412456 | None | None | N |
| P/S | 0.9835 | likely_pathogenic | 0.9763 | pathogenic | -2.074 | Highly Destabilizing | 0.987 | D | 0.733 | deleterious | D | 0.689210652 | None | None | N |
| P/T | 0.9856 | likely_pathogenic | 0.9825 | pathogenic | -1.909 | Destabilizing | 0.974 | D | 0.756 | deleterious | D | 0.689412456 | None | None | N |
| P/V | 0.9848 | likely_pathogenic | 0.9838 | pathogenic | -0.906 | Destabilizing | 0.961 | D | 0.802 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.412 | Destabilizing | 0.999 | D | 0.829 | deleterious | None | None | None | None | N |
| P/Y | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.073 | Destabilizing | 0.997 | D | 0.832 | 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.