Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2258 | 6997;6998;6999 | chr2:178774939;178774938;178774937 | chr2:179639666;179639665;179639664 |
| N2AB | 2258 | 6997;6998;6999 | chr2:178774939;178774938;178774937 | chr2:179639666;179639665;179639664 |
| N2A | 2258 | 6997;6998;6999 | chr2:178774939;178774938;178774937 | chr2:179639666;179639665;179639664 |
| N2B | 2212 | 6859;6860;6861 | chr2:178774939;178774938;178774937 | chr2:179639666;179639665;179639664 |
| Novex-1 | 2212 | 6859;6860;6861 | chr2:178774939;178774938;178774937 | chr2:179639666;179639665;179639664 |
| Novex-2 | 2212 | 6859;6860;6861 | chr2:178774939;178774938;178774937 | chr2:179639666;179639665;179639664 |
| Novex-3 | 2258 | 6997;6998;6999 | chr2:178774939;178774938;178774937 | chr2:179639666;179639665;179639664 |
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/V | rs72647881  |
0.095 | 1.0 | D | 0.629 | 0.504 | 0.678105409991 | gnomAD-2.1.1 | 7.98E-06 | None | None | None | None | N | None | 1.23107E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs72647881 |
0.095 | 1.0 | D | 0.629 | 0.504 | 0.678105409991 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs72647881 |
0.095 | 1.0 | D | 0.629 | 0.504 | 0.678105409991 | gnomAD-4.0.0 | 5.12501E-06 | None | None | None | None | N | None | 6.76682E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.8508 | likely_pathogenic | 0.8691 | pathogenic | -1.206 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| A/D | 0.9876 | likely_pathogenic | 0.9904 | pathogenic | -1.584 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.747518893 | None | None | N |
| A/E | 0.9916 | likely_pathogenic | 0.9931 | pathogenic | -1.515 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/F | 0.9908 | likely_pathogenic | 0.9929 | pathogenic | -0.979 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| A/G | 0.1281 | likely_benign | 0.1417 | benign | -1.423 | Destabilizing | 1.0 | D | 0.577 | neutral | D | 0.649382471 | None | None | N |
| A/H | 0.9933 | likely_pathogenic | 0.9945 | pathogenic | -1.634 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| A/I | 0.9885 | likely_pathogenic | 0.9909 | pathogenic | -0.154 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| A/K | 0.9941 | likely_pathogenic | 0.9951 | pathogenic | -1.143 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/L | 0.9655 | likely_pathogenic | 0.9708 | pathogenic | -0.154 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| A/M | 0.972 | likely_pathogenic | 0.9772 | pathogenic | -0.273 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/N | 0.9787 | likely_pathogenic | 0.9832 | pathogenic | -1.114 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| A/P | 0.9969 | likely_pathogenic | 0.9974 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.747518893 | None | None | N |
| A/Q | 0.9805 | likely_pathogenic | 0.9832 | pathogenic | -1.139 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| A/R | 0.981 | likely_pathogenic | 0.9842 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| A/S | 0.2244 | likely_benign | 0.2417 | benign | -1.577 | Destabilizing | 1.0 | D | 0.591 | neutral | D | 0.669556707 | None | None | N |
| A/T | 0.6823 | likely_pathogenic | 0.732 | pathogenic | -1.391 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | D | 0.668781213 | None | None | N |
| A/V | 0.9089 | likely_pathogenic | 0.9238 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.629 | neutral | D | 0.677955648 | None | None | N |
| A/W | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -1.469 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/Y | 0.9958 | likely_pathogenic | 0.9968 | pathogenic | -0.984 | Destabilizing | 1.0 | D | 0.894 | 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.