Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29755 | 89488;89489;89490 | chr2:178553742;178553741;178553740 | chr2:179418469;179418468;179418467 |
| N2AB | 28114 | 84565;84566;84567 | chr2:178553742;178553741;178553740 | chr2:179418469;179418468;179418467 |
| N2A | 27187 | 81784;81785;81786 | chr2:178553742;178553741;178553740 | chr2:179418469;179418468;179418467 |
| N2B | 20690 | 62293;62294;62295 | chr2:178553742;178553741;178553740 | chr2:179418469;179418468;179418467 |
| Novex-1 | 20815 | 62668;62669;62670 | chr2:178553742;178553741;178553740 | chr2:179418469;179418468;179418467 |
| Novex-2 | 20882 | 62869;62870;62871 | chr2:178553742;178553741;178553740 | chr2:179418469;179418468;179418467 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | None | None | 1.0 | D | 0.87 | 0.857 | 0.881156160365 | gnomAD-4.0.0 | 2.0534E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79935E-06 | 0 | 1.65706E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9962 | likely_pathogenic | 0.9968 | pathogenic | -3.323 | Highly Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| W/C | 0.9972 | likely_pathogenic | 0.9975 | pathogenic | -2.035 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.650390947 | None | None | N |
| W/D | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -3.431 | Highly Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | None | None | N |
| W/E | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -3.303 | Highly Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| W/F | 0.6117 | likely_pathogenic | 0.6705 | pathogenic | -2.071 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| W/G | 0.9803 | likely_pathogenic | 0.9824 | pathogenic | -3.577 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.650390947 | None | None | N |
| W/H | 0.9969 | likely_pathogenic | 0.9976 | pathogenic | -2.591 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| W/I | 0.9845 | likely_pathogenic | 0.987 | pathogenic | -2.35 | Highly Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | None | None | N |
| W/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.568 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| W/L | 0.9743 | likely_pathogenic | 0.9777 | pathogenic | -2.35 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.600889874 | None | None | N |
| W/M | 0.9935 | likely_pathogenic | 0.9948 | pathogenic | -1.96 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| W/N | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -3.236 | Highly Destabilizing | 1.0 | D | 0.943 | deleterious | None | None | None | None | N |
| W/P | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -2.706 | Highly Destabilizing | 1.0 | D | 0.945 | deleterious | None | None | None | None | N |
| W/Q | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -3.067 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| W/R | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -2.286 | Highly Destabilizing | 1.0 | D | 0.933 | deleterious | D | 0.650390947 | None | None | N |
| W/S | 0.995 | likely_pathogenic | 0.9958 | pathogenic | -3.451 | Highly Destabilizing | 1.0 | D | 0.918 | deleterious | D | 0.650390947 | None | None | N |
| W/T | 0.9972 | likely_pathogenic | 0.9978 | pathogenic | -3.246 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| W/V | 0.9886 | likely_pathogenic | 0.9902 | pathogenic | -2.706 | Highly Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| W/Y | 0.9426 | likely_pathogenic | 0.9503 | pathogenic | -1.877 | Destabilizing | 1.0 | D | 0.858 | 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.