Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26855 | 80788;80789;80790 | chr2:178565569;178565568;178565567 | chr2:179430296;179430295;179430294 |
| N2AB | 25214 | 75865;75866;75867 | chr2:178565569;178565568;178565567 | chr2:179430296;179430295;179430294 |
| N2A | 24287 | 73084;73085;73086 | chr2:178565569;178565568;178565567 | chr2:179430296;179430295;179430294 |
| N2B | 17790 | 53593;53594;53595 | chr2:178565569;178565568;178565567 | chr2:179430296;179430295;179430294 |
| Novex-1 | 17915 | 53968;53969;53970 | chr2:178565569;178565568;178565567 | chr2:179430296;179430295;179430294 |
| Novex-2 | 17982 | 54169;54170;54171 | chr2:178565569;178565568;178565567 | chr2:179430296;179430295;179430294 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs1705474323  |
None | 1.0 | D | 0.619 | 0.82 | 0.673260283104 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | rs1705474323 |
None | 1.0 | D | 0.619 | 0.82 | 0.673260283104 | gnomAD-4.0.0 | 6.57644E-06 | None | None | None | None | N | None | 2.41511E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | rs939692096 |
None | 1.0 | D | 0.877 | 0.858 | 0.727179310058 | gnomAD-4.0.0 | 2.05284E-06 | None | None | None | None | N | None | 5.978E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15942E-05 | 0 |
| A/S | None | None | 1.0 | D | 0.612 | 0.752 | 0.59876965859 | gnomAD-4.0.0 | 1.36856E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79913E-06 | 0 | 0 |
| A/T | None | None | 1.0 | D | 0.794 | 0.836 | 0.6694009371 | gnomAD-4.0.0 | 6.84279E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99567E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8608 | likely_pathogenic | 0.8625 | pathogenic | -1.681 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| A/D | 0.9952 | likely_pathogenic | 0.9951 | pathogenic | -2.853 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.654293128 | None | None | N |
| A/E | 0.9938 | likely_pathogenic | 0.9946 | pathogenic | -2.605 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| A/F | 0.9884 | likely_pathogenic | 0.9887 | pathogenic | -0.962 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| A/G | 0.4554 | ambiguous | 0.4349 | ambiguous | -2.486 | Highly Destabilizing | 1.0 | D | 0.619 | neutral | D | 0.604388447 | None | None | N |
| A/H | 0.9963 | likely_pathogenic | 0.9971 | pathogenic | -2.392 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| A/I | 0.9605 | likely_pathogenic | 0.956 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| A/K | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -1.599 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| A/L | 0.9189 | likely_pathogenic | 0.9189 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/M | 0.9603 | likely_pathogenic | 0.9568 | pathogenic | -1.2 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| A/N | 0.9842 | likely_pathogenic | 0.9858 | pathogenic | -2.041 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| A/P | 0.9795 | likely_pathogenic | 0.9672 | pathogenic | -1.168 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.628149604 | None | None | N |
| A/Q | 0.9901 | likely_pathogenic | 0.9923 | pathogenic | -1.74 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| A/R | 0.995 | likely_pathogenic | 0.9963 | pathogenic | -1.676 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| A/S | 0.3193 | likely_benign | 0.328 | benign | -2.417 | Highly Destabilizing | 1.0 | D | 0.612 | neutral | D | 0.575458946 | None | None | N |
| A/T | 0.6938 | likely_pathogenic | 0.6671 | pathogenic | -2.061 | Highly Destabilizing | 1.0 | D | 0.794 | deleterious | D | 0.62101322 | None | None | N |
| A/V | 0.8098 | likely_pathogenic | 0.7815 | pathogenic | -1.168 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | D | 0.620407808 | None | None | N |
| A/W | 0.9986 | likely_pathogenic | 0.999 | pathogenic | -1.555 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| A/Y | 0.9937 | likely_pathogenic | 0.9944 | pathogenic | -1.288 | Destabilizing | 1.0 | D | 0.915 | 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.