Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28315 | 85168;85169;85170 | chr2:178561189;178561188;178561187 | chr2:179425916;179425915;179425914 |
| N2AB | 26674 | 80245;80246;80247 | chr2:178561189;178561188;178561187 | chr2:179425916;179425915;179425914 |
| N2A | 25747 | 77464;77465;77466 | chr2:178561189;178561188;178561187 | chr2:179425916;179425915;179425914 |
| N2B | 19250 | 57973;57974;57975 | chr2:178561189;178561188;178561187 | chr2:179425916;179425915;179425914 |
| Novex-1 | 19375 | 58348;58349;58350 | chr2:178561189;178561188;178561187 | chr2:179425916;179425915;179425914 |
| Novex-2 | 19442 | 58549;58550;58551 | chr2:178561189;178561188;178561187 | chr2:179425916;179425915;179425914 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/S | rs1369979989  |
-0.646 | 0.977 | N | 0.399 | 0.255 | 0.211220785272 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/S | rs1369979989 |
-0.646 | 0.977 | N | 0.399 | 0.255 | 0.211220785272 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | rs1369979989 |
-0.646 | 0.977 | N | 0.399 | 0.255 | 0.211220785272 | gnomAD-4.0.0 | 7.43744E-06 | None | None | None | None | N | None | 1.60197E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1059 | likely_benign | 0.0945 | benign | -0.708 | Destabilizing | 0.898 | D | 0.423 | neutral | N | 0.492274651 | None | None | N |
| T/C | 0.4851 | ambiguous | 0.4601 | ambiguous | -0.405 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| T/D | 0.4653 | ambiguous | 0.4305 | ambiguous | -0.011 | Destabilizing | 0.998 | D | 0.693 | prob.neutral | None | None | None | None | N |
| T/E | 0.3916 | ambiguous | 0.3515 | ambiguous | -0.031 | Destabilizing | 0.998 | D | 0.702 | prob.neutral | None | None | None | None | N |
| T/F | 0.4192 | ambiguous | 0.3702 | ambiguous | -0.845 | Destabilizing | 0.999 | D | 0.787 | deleterious | None | None | None | None | N |
| T/G | 0.2095 | likely_benign | 0.1848 | benign | -0.942 | Destabilizing | 0.15 | N | 0.373 | neutral | None | None | None | None | N |
| T/H | 0.3142 | likely_benign | 0.2819 | benign | -1.18 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| T/I | 0.3367 | likely_benign | 0.2803 | benign | -0.186 | Destabilizing | 0.999 | D | 0.769 | deleterious | N | 0.495846276 | None | None | N |
| T/K | 0.2031 | likely_benign | 0.1791 | benign | -0.668 | Destabilizing | 0.998 | D | 0.719 | prob.delet. | None | None | None | None | N |
| T/L | 0.1459 | likely_benign | 0.1252 | benign | -0.186 | Destabilizing | 0.991 | D | 0.616 | neutral | None | None | None | None | N |
| T/M | 0.114 | likely_benign | 0.1069 | benign | 0.045 | Stabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| T/N | 0.1349 | likely_benign | 0.1214 | benign | -0.526 | Destabilizing | 0.993 | D | 0.599 | neutral | N | 0.47760021 | None | None | N |
| T/P | 0.1344 | likely_benign | 0.1214 | benign | -0.328 | Destabilizing | 0.999 | D | 0.768 | deleterious | N | 0.483373881 | None | None | N |
| T/Q | 0.2515 | likely_benign | 0.2293 | benign | -0.695 | Destabilizing | 0.999 | D | 0.78 | deleterious | None | None | None | None | N |
| T/R | 0.203 | likely_benign | 0.1791 | benign | -0.402 | Destabilizing | 0.998 | D | 0.775 | deleterious | None | None | None | None | N |
| T/S | 0.1087 | likely_benign | 0.1013 | benign | -0.808 | Destabilizing | 0.977 | D | 0.399 | neutral | N | 0.476480251 | None | None | N |
| T/V | 0.2297 | likely_benign | 0.1957 | benign | -0.328 | Destabilizing | 0.991 | D | 0.507 | neutral | None | None | None | None | N |
| T/W | 0.713 | likely_pathogenic | 0.6811 | pathogenic | -0.788 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| T/Y | 0.44 | ambiguous | 0.3952 | ambiguous | -0.56 | 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.