Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15433 | 46522;46523;46524 | chr2:178620224;178620223;178620222 | chr2:179484951;179484950;179484949 |
| N2AB | 13792 | 41599;41600;41601 | chr2:178620224;178620223;178620222 | chr2:179484951;179484950;179484949 |
| N2A | 12865 | 38818;38819;38820 | chr2:178620224;178620223;178620222 | chr2:179484951;179484950;179484949 |
| N2B | 6368 | 19327;19328;19329 | chr2:178620224;178620223;178620222 | chr2:179484951;179484950;179484949 |
| Novex-1 | 6493 | 19702;19703;19704 | chr2:178620224;178620223;178620222 | chr2:179484951;179484950;179484949 |
| Novex-2 | 6560 | 19903;19904;19905 | chr2:178620224;178620223;178620222 | chr2:179484951;179484950;179484949 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/C | None | None | 0.997 | D | 0.776 | 0.416 | 0.666410456768 | gnomAD-4.0.0 | 7.22964E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.27869E-07 | 0 | 0 |
| G/D | rs1553715070  |
-0.047 | 0.957 | N | 0.645 | 0.335 | 0.325263233342 | gnomAD-2.1.1 | 5.36E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.1E-05 | 0 |
| G/D | rs1553715070 |
-0.047 | 0.957 | N | 0.645 | 0.335 | 0.325263233342 | gnomAD-4.0.0 | 1.81664E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.16552E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2768 | likely_benign | 0.3641 | ambiguous | -0.28 | Destabilizing | 0.085 | N | 0.329 | neutral | D | 0.573673894 | None | None | N |
| G/C | 0.5467 | ambiguous | 0.6006 | pathogenic | -0.759 | Destabilizing | 0.997 | D | 0.776 | deleterious | D | 0.568353212 | None | None | N |
| G/D | 0.3844 | ambiguous | 0.4144 | ambiguous | -0.461 | Destabilizing | 0.957 | D | 0.645 | neutral | N | 0.492835694 | None | None | N |
| G/E | 0.572 | likely_pathogenic | 0.6599 | pathogenic | -0.554 | Destabilizing | 0.983 | D | 0.698 | prob.neutral | None | None | None | None | N |
| G/F | 0.8976 | likely_pathogenic | 0.9414 | pathogenic | -0.729 | Destabilizing | 0.998 | D | 0.782 | deleterious | None | None | None | None | N |
| G/H | 0.759 | likely_pathogenic | 0.8302 | pathogenic | -0.556 | Destabilizing | 0.998 | D | 0.748 | deleterious | None | None | None | None | N |
| G/I | 0.7681 | likely_pathogenic | 0.8627 | pathogenic | -0.164 | Destabilizing | 0.983 | D | 0.78 | deleterious | None | None | None | None | N |
| G/K | 0.8766 | likely_pathogenic | 0.915 | pathogenic | -0.868 | Destabilizing | 0.983 | D | 0.7 | prob.neutral | None | None | None | None | N |
| G/L | 0.7895 | likely_pathogenic | 0.8741 | pathogenic | -0.164 | Destabilizing | 0.968 | D | 0.729 | prob.delet. | None | None | None | None | N |
| G/M | 0.7895 | likely_pathogenic | 0.8694 | pathogenic | -0.417 | Destabilizing | 0.999 | D | 0.772 | deleterious | None | None | None | None | N |
| G/N | 0.3196 | likely_benign | 0.3859 | ambiguous | -0.57 | Destabilizing | 0.05 | N | 0.353 | neutral | None | None | None | None | N |
| G/P | 0.9809 | likely_pathogenic | 0.9878 | pathogenic | -0.165 | Destabilizing | 0.992 | D | 0.743 | deleterious | None | None | None | None | N |
| G/Q | 0.7113 | likely_pathogenic | 0.7807 | pathogenic | -0.738 | Destabilizing | 0.992 | D | 0.751 | deleterious | None | None | None | None | N |
| G/R | 0.8389 | likely_pathogenic | 0.886 | pathogenic | -0.518 | Destabilizing | 0.978 | D | 0.709 | prob.delet. | D | 0.629462019 | None | None | N |
| G/S | 0.1341 | likely_benign | 0.1587 | benign | -0.777 | Destabilizing | 0.865 | D | 0.522 | neutral | N | 0.484574715 | None | None | N |
| G/T | 0.2858 | likely_benign | 0.3451 | ambiguous | -0.783 | Destabilizing | 0.983 | D | 0.676 | prob.neutral | None | None | None | None | N |
| G/V | 0.6045 | likely_pathogenic | 0.7244 | pathogenic | -0.165 | Destabilizing | 0.957 | D | 0.732 | prob.delet. | D | 0.631555715 | None | None | N |
| G/W | 0.8162 | likely_pathogenic | 0.8531 | pathogenic | -1.003 | Destabilizing | 0.999 | D | 0.745 | deleterious | None | None | None | None | N |
| G/Y | 0.7951 | likely_pathogenic | 0.8777 | pathogenic | -0.597 | Destabilizing | 0.999 | D | 0.781 | 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.