Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23159 | 69700;69701;69702 | chr2:178576769;178576768;178576767 | chr2:179441496;179441495;179441494 |
| N2AB | 21518 | 64777;64778;64779 | chr2:178576769;178576768;178576767 | chr2:179441496;179441495;179441494 |
| N2A | 20591 | 61996;61997;61998 | chr2:178576769;178576768;178576767 | chr2:179441496;179441495;179441494 |
| N2B | 14094 | 42505;42506;42507 | chr2:178576769;178576768;178576767 | chr2:179441496;179441495;179441494 |
| Novex-1 | 14219 | 42880;42881;42882 | chr2:178576769;178576768;178576767 | chr2:179441496;179441495;179441494 |
| Novex-2 | 14286 | 43081;43082;43083 | chr2:178576769;178576768;178576767 | chr2:179441496;179441495;179441494 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs1473805330  |
None | 0.201 | N | 0.494 | 0.099 | 0.20549828249 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94326E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/G | rs1473805330 |
None | 0.201 | N | 0.494 | 0.099 | 0.20549828249 | gnomAD-4.0.0 | 6.08947E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.28206E-04 | None | 0 | 0 | 0 | 4.69792E-05 | 1.02013E-04 |
| S/I | None | None | 0.81 | N | 0.675 | 0.267 | 0.412849826617 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| S/R | None | None | 0.81 | N | 0.661 | 0.284 | 0.0954503805726 | gnomAD-4.0.0 | 1.59193E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85935E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.086 | likely_benign | 0.087 | benign | -0.589 | Destabilizing | 0.005 | N | 0.228 | neutral | None | None | None | None | N |
| S/C | 0.078 | likely_benign | 0.0736 | benign | -0.457 | Destabilizing | 0.02 | N | 0.55 | neutral | D | 0.526837287 | None | None | N |
| S/D | 0.6736 | likely_pathogenic | 0.5607 | ambiguous | -0.549 | Destabilizing | 0.447 | N | 0.603 | neutral | None | None | None | None | N |
| S/E | 0.6854 | likely_pathogenic | 0.5944 | pathogenic | -0.483 | Destabilizing | 0.617 | D | 0.603 | neutral | None | None | None | None | N |
| S/F | 0.1592 | likely_benign | 0.1533 | benign | -0.538 | Destabilizing | 0.92 | D | 0.672 | neutral | None | None | None | None | N |
| S/G | 0.1205 | likely_benign | 0.1097 | benign | -0.908 | Destabilizing | 0.201 | N | 0.494 | neutral | N | 0.506307299 | None | None | N |
| S/H | 0.3519 | ambiguous | 0.273 | benign | -1.411 | Destabilizing | 0.955 | D | 0.608 | neutral | None | None | None | None | N |
| S/I | 0.1396 | likely_benign | 0.1155 | benign | 0.17 | Stabilizing | 0.81 | D | 0.675 | prob.neutral | N | 0.484253389 | None | None | N |
| S/K | 0.7634 | likely_pathogenic | 0.6583 | pathogenic | -0.67 | Destabilizing | 0.447 | N | 0.603 | neutral | None | None | None | None | N |
| S/L | 0.0896 | likely_benign | 0.0906 | benign | 0.17 | Stabilizing | 0.447 | N | 0.641 | neutral | None | None | None | None | N |
| S/M | 0.1553 | likely_benign | 0.1438 | benign | 0.199 | Stabilizing | 0.992 | D | 0.609 | neutral | None | None | None | None | N |
| S/N | 0.1664 | likely_benign | 0.1286 | benign | -0.833 | Destabilizing | 0.004 | N | 0.475 | neutral | D | 0.525103704 | None | None | N |
| S/P | 0.9515 | likely_pathogenic | 0.9339 | pathogenic | -0.047 | Destabilizing | 0.92 | D | 0.661 | neutral | None | None | None | None | N |
| S/Q | 0.5315 | ambiguous | 0.446 | ambiguous | -0.808 | Destabilizing | 0.85 | D | 0.614 | neutral | None | None | None | None | N |
| S/R | 0.6562 | likely_pathogenic | 0.5466 | ambiguous | -0.755 | Destabilizing | 0.81 | D | 0.661 | neutral | N | 0.494780797 | None | None | N |
| S/T | 0.0731 | likely_benign | 0.0656 | benign | -0.692 | Destabilizing | 0.002 | N | 0.215 | neutral | N | 0.404564224 | None | None | N |
| S/V | 0.1522 | likely_benign | 0.1316 | benign | -0.047 | Destabilizing | 0.447 | N | 0.646 | neutral | None | None | None | None | N |
| S/W | 0.3347 | likely_benign | 0.3111 | benign | -0.658 | Destabilizing | 0.992 | D | 0.716 | prob.delet. | None | None | None | None | N |
| S/Y | 0.1783 | likely_benign | 0.1593 | benign | -0.323 | Destabilizing | 0.972 | D | 0.65 | neutral | 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.