Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26538 | 79837;79838;79839 | chr2:178566520;178566519;178566518 | chr2:179431247;179431246;179431245 |
| N2AB | 24897 | 74914;74915;74916 | chr2:178566520;178566519;178566518 | chr2:179431247;179431246;179431245 |
| N2A | 23970 | 72133;72134;72135 | chr2:178566520;178566519;178566518 | chr2:179431247;179431246;179431245 |
| N2B | 17473 | 52642;52643;52644 | chr2:178566520;178566519;178566518 | chr2:179431247;179431246;179431245 |
| Novex-1 | 17598 | 53017;53018;53019 | chr2:178566520;178566519;178566518 | chr2:179431247;179431246;179431245 |
| Novex-2 | 17665 | 53218;53219;53220 | chr2:178566520;178566519;178566518 | chr2:179431247;179431246;179431245 |
| 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/A | rs150682764  |
-1.001 | 0.999 | N | 0.575 | 0.383 | None | gnomAD-2.1.1 | 3.68254E-04 | None | None | None | None | N | None | 3.96924E-03 | 1.69712E-04 | None | 0 | 0 | None | 0 | None | 0 | 7.83E-06 | 0 |
| T/A | rs150682764 |
-1.001 | 0.999 | N | 0.575 | 0.383 | None | gnomAD-3.1.2 | 9.86582E-04 | None | None | None | None | N | None | 3.47776E-03 | 1.9698E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.43403E-03 |
| T/A | rs150682764 |
-1.001 | 0.999 | N | 0.575 | 0.383 | None | 1000 genomes | 2.59585E-03 | None | None | None | None | N | None | 9.8E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| T/A | rs150682764 |
-1.001 | 0.999 | N | 0.575 | 0.383 | None | gnomAD-4.0.0 | 2.2437E-04 | None | None | None | None | N | None | 4.42761E-03 | 2.00127E-04 | None | 0 | 0 | None | 0 | 0 | 2.54307E-06 | 0 | 2.40146E-04 |
| T/S | rs1254178155 |
-0.894 | 0.999 | N | 0.562 | 0.309 | 0.314417295294 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/S | rs1254178155 |
-0.894 | 0.999 | N | 0.562 | 0.309 | 0.314417295294 | gnomAD-4.0.0 | 1.59208E-06 | None | None | None | None | N | None | 0 | 2.28676E-05 | 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 | 0.3408 | ambiguous | 0.3788 | ambiguous | -0.835 | Destabilizing | 0.999 | D | 0.575 | neutral | N | 0.478656551 | None | None | N |
| T/C | 0.7855 | likely_pathogenic | 0.8077 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| T/D | 0.9133 | likely_pathogenic | 0.9298 | pathogenic | -0.008 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| T/E | 0.915 | likely_pathogenic | 0.9303 | pathogenic | 0.121 | Stabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| T/F | 0.8299 | likely_pathogenic | 0.853 | pathogenic | -0.792 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| T/G | 0.5963 | likely_pathogenic | 0.6691 | pathogenic | -1.185 | Destabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | N |
| T/H | 0.7427 | likely_pathogenic | 0.7813 | pathogenic | -1.26 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| T/I | 0.7136 | likely_pathogenic | 0.7541 | pathogenic | 0.042 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.4747266 | None | None | N |
| T/K | 0.8999 | likely_pathogenic | 0.9138 | pathogenic | -0.149 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| T/L | 0.4247 | ambiguous | 0.4816 | ambiguous | 0.042 | Stabilizing | 0.999 | D | 0.64 | neutral | None | None | None | None | N |
| T/M | 0.31 | likely_benign | 0.3329 | benign | -0.027 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| T/N | 0.4583 | ambiguous | 0.5125 | ambiguous | -0.561 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.445522625 | None | None | N |
| T/P | 0.5135 | ambiguous | 0.5448 | ambiguous | -0.218 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | N | 0.470562772 | None | None | N |
| T/Q | 0.8378 | likely_pathogenic | 0.861 | pathogenic | -0.423 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| T/R | 0.8998 | likely_pathogenic | 0.9084 | pathogenic | -0.258 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| T/S | 0.2294 | likely_benign | 0.265 | benign | -0.927 | Destabilizing | 0.999 | D | 0.562 | neutral | N | 0.458990568 | None | None | N |
| T/V | 0.5967 | likely_pathogenic | 0.6387 | pathogenic | -0.218 | Destabilizing | 0.999 | D | 0.611 | neutral | None | None | None | None | N |
| T/W | 0.9575 | likely_pathogenic | 0.9591 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| T/Y | 0.846 | likely_pathogenic | 0.8638 | pathogenic | -0.464 | Destabilizing | 1.0 | D | 0.755 | 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.