Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23553 | 70882;70883;70884 | chr2:178575475;178575474;178575473 | chr2:179440202;179440201;179440200 |
| N2AB | 21912 | 65959;65960;65961 | chr2:178575475;178575474;178575473 | chr2:179440202;179440201;179440200 |
| N2A | 20985 | 63178;63179;63180 | chr2:178575475;178575474;178575473 | chr2:179440202;179440201;179440200 |
| N2B | 14488 | 43687;43688;43689 | chr2:178575475;178575474;178575473 | chr2:179440202;179440201;179440200 |
| Novex-1 | 14613 | 44062;44063;44064 | chr2:178575475;178575474;178575473 | chr2:179440202;179440201;179440200 |
| Novex-2 | 14680 | 44263;44264;44265 | chr2:178575475;178575474;178575473 | chr2:179440202;179440201;179440200 |
| 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/G | None | None | 1.0 | D | 0.851 | 0.813 | 0.862868373484 | gnomAD-4.0.0 | 1.59155E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85894E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9959 | likely_pathogenic | 0.9956 | pathogenic | -3.364 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| W/C | 0.998 | likely_pathogenic | 0.998 | pathogenic | -1.961 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.679954426 | None | None | N |
| W/D | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -3.902 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| W/E | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -3.793 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| W/F | 0.6793 | likely_pathogenic | 0.6594 | pathogenic | -2.237 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| W/G | 0.9817 | likely_pathogenic | 0.9782 | pathogenic | -3.59 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.679954426 | None | None | N |
| W/H | 0.9972 | likely_pathogenic | 0.997 | pathogenic | -2.605 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| W/I | 0.9849 | likely_pathogenic | 0.9841 | pathogenic | -2.477 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| W/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.955 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| W/L | 0.9609 | likely_pathogenic | 0.9571 | pathogenic | -2.477 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.662926044 | None | None | N |
| W/M | 0.9938 | likely_pathogenic | 0.9933 | pathogenic | -1.874 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| W/N | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -3.702 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| W/P | 0.999 | likely_pathogenic | 0.999 | pathogenic | -2.804 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| W/Q | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.539 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| W/R | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -2.656 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | D | 0.679954426 | None | None | N |
| W/S | 0.9937 | likely_pathogenic | 0.9931 | pathogenic | -3.775 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.679954426 | None | None | N |
| W/T | 0.9974 | likely_pathogenic | 0.9973 | pathogenic | -3.594 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/V | 0.9864 | likely_pathogenic | 0.986 | pathogenic | -2.804 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| W/Y | 0.9473 | likely_pathogenic | 0.9425 | pathogenic | -2.118 | Highly Destabilizing | 1.0 | D | 0.86 | 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.