Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19185 | 57778;57779;57780 | chr2:178595801;178595800;178595799 | chr2:179460528;179460527;179460526 |
| N2AB | 17544 | 52855;52856;52857 | chr2:178595801;178595800;178595799 | chr2:179460528;179460527;179460526 |
| N2A | 16617 | 50074;50075;50076 | chr2:178595801;178595800;178595799 | chr2:179460528;179460527;179460526 |
| N2B | 10120 | 30583;30584;30585 | chr2:178595801;178595800;178595799 | chr2:179460528;179460527;179460526 |
| Novex-1 | 10245 | 30958;30959;30960 | chr2:178595801;178595800;178595799 | chr2:179460528;179460527;179460526 |
| Novex-2 | 10312 | 31159;31160;31161 | chr2:178595801;178595800;178595799 | chr2:179460528;179460527;179460526 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs879121197  |
None | 0.999 | N | 0.782 | 0.416 | 0.330331372229 | gnomAD-4.0.0 | 3.45841E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.52764E-06 | 0 | 0 |
| G/R | rs750828138 |
-0.853 | 1.0 | N | 0.889 | 0.46 | 0.609368579385 | gnomAD-2.1.1 | 4.67E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.05E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4848 | ambiguous | 0.4837 | ambiguous | -0.825 | Destabilizing | 0.999 | D | 0.782 | deleterious | N | 0.48268541 | None | None | N |
| G/C | 0.8129 | likely_pathogenic | 0.8282 | pathogenic | -1.105 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.522567678 | None | None | N |
| G/D | 0.9165 | likely_pathogenic | 0.9446 | pathogenic | -1.741 | Destabilizing | 1.0 | D | 0.92 | deleterious | N | 0.462806728 | None | None | N |
| G/E | 0.9222 | likely_pathogenic | 0.9436 | pathogenic | -1.797 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| G/F | 0.9669 | likely_pathogenic | 0.9755 | pathogenic | -1.187 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| G/H | 0.9575 | likely_pathogenic | 0.9701 | pathogenic | -1.446 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/I | 0.9626 | likely_pathogenic | 0.968 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/K | 0.9541 | likely_pathogenic | 0.9644 | pathogenic | -1.346 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| G/L | 0.9181 | likely_pathogenic | 0.9396 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/M | 0.9542 | likely_pathogenic | 0.9635 | pathogenic | -0.399 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/N | 0.9073 | likely_pathogenic | 0.9282 | pathogenic | -1.081 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| G/P | 0.9945 | likely_pathogenic | 0.9958 | pathogenic | -0.537 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| G/Q | 0.9138 | likely_pathogenic | 0.9325 | pathogenic | -1.303 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/R | 0.9127 | likely_pathogenic | 0.9308 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.889 | deleterious | N | 0.503449465 | None | None | N |
| G/S | 0.3506 | ambiguous | 0.3592 | ambiguous | -1.274 | Destabilizing | 1.0 | D | 0.868 | deleterious | N | 0.507546945 | None | None | N |
| G/T | 0.8385 | likely_pathogenic | 0.8415 | pathogenic | -1.265 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| G/V | 0.9305 | likely_pathogenic | 0.9363 | pathogenic | -0.537 | Destabilizing | 1.0 | D | 0.895 | deleterious | N | 0.499183504 | None | None | N |
| G/W | 0.9623 | likely_pathogenic | 0.9724 | pathogenic | -1.543 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/Y | 0.9588 | likely_pathogenic | 0.9691 | pathogenic | -1.141 | Destabilizing | 1.0 | D | 0.852 | 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.