Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26542 | 79849;79850;79851 | chr2:178566508;178566507;178566506 | chr2:179431235;179431234;179431233 |
| N2AB | 24901 | 74926;74927;74928 | chr2:178566508;178566507;178566506 | chr2:179431235;179431234;179431233 |
| N2A | 23974 | 72145;72146;72147 | chr2:178566508;178566507;178566506 | chr2:179431235;179431234;179431233 |
| N2B | 17477 | 52654;52655;52656 | chr2:178566508;178566507;178566506 | chr2:179431235;179431234;179431233 |
| Novex-1 | 17602 | 53029;53030;53031 | chr2:178566508;178566507;178566506 | chr2:179431235;179431234;179431233 |
| Novex-2 | 17669 | 53230;53231;53232 | chr2:178566508;178566507;178566506 | chr2:179431235;179431234;179431233 |
| 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/D | rs1308248191  |
-0.749 | 0.999 | N | 0.767 | 0.428 | 0.409800938858 | 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 |
| G/D | rs1308248191 |
-0.749 | 0.999 | N | 0.767 | 0.428 | 0.409800938858 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs1308248191 |
-0.749 | 0.999 | N | 0.767 | 0.428 | 0.409800938858 | gnomAD-4.0.0 | 6.57678E-06 | None | None | None | None | N | None | 2.41453E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs1308248191 |
None | 0.995 | N | 0.761 | 0.389 | 0.593515057505 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs1308248191 |
None | 0.995 | N | 0.761 | 0.389 | 0.593515057505 | gnomAD-4.0.0 | 6.57678E-06 | None | None | None | None | N | None | 2.41453E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2481 | likely_benign | 0.298 | benign | -0.542 | Destabilizing | 0.45 | N | 0.497 | neutral | N | 0.499778398 | None | None | N |
| G/C | 0.4675 | ambiguous | 0.53 | ambiguous | -0.872 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | N | 0.520020384 | None | None | N |
| G/D | 0.8716 | likely_pathogenic | 0.8897 | pathogenic | -0.665 | Destabilizing | 0.999 | D | 0.767 | deleterious | N | 0.506376296 | None | None | N |
| G/E | 0.8136 | likely_pathogenic | 0.8435 | pathogenic | -0.779 | Destabilizing | 0.998 | D | 0.755 | deleterious | None | None | None | None | N |
| G/F | 0.8843 | likely_pathogenic | 0.9123 | pathogenic | -0.999 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| G/H | 0.887 | likely_pathogenic | 0.9071 | pathogenic | -1.012 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| G/I | 0.6444 | likely_pathogenic | 0.7283 | pathogenic | -0.381 | Destabilizing | 0.999 | D | 0.759 | deleterious | None | None | None | None | N |
| G/K | 0.9048 | likely_pathogenic | 0.9202 | pathogenic | -1.052 | Destabilizing | 0.998 | D | 0.756 | deleterious | None | None | None | None | N |
| G/L | 0.7523 | likely_pathogenic | 0.8052 | pathogenic | -0.381 | Destabilizing | 0.996 | D | 0.763 | deleterious | None | None | None | None | N |
| G/M | 0.7929 | likely_pathogenic | 0.8346 | pathogenic | -0.349 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| G/N | 0.7832 | likely_pathogenic | 0.8158 | pathogenic | -0.646 | Destabilizing | 0.999 | D | 0.769 | deleterious | None | None | None | None | N |
| G/P | 0.888 | likely_pathogenic | 0.9228 | pathogenic | -0.396 | Destabilizing | 0.999 | D | 0.764 | deleterious | None | None | None | None | N |
| G/Q | 0.8275 | likely_pathogenic | 0.8498 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/R | 0.816 | likely_pathogenic | 0.8308 | pathogenic | -0.71 | Destabilizing | 0.999 | D | 0.767 | deleterious | N | 0.500298473 | None | None | N |
| G/S | 0.287 | likely_benign | 0.3346 | benign | -0.896 | Destabilizing | 0.995 | D | 0.713 | prob.delet. | N | 0.49958361 | None | None | N |
| G/T | 0.48 | ambiguous | 0.5531 | ambiguous | -0.932 | Destabilizing | 0.998 | D | 0.751 | deleterious | None | None | None | None | N |
| G/V | 0.5184 | ambiguous | 0.6011 | pathogenic | -0.396 | Destabilizing | 0.995 | D | 0.761 | deleterious | N | 0.520692388 | None | None | N |
| G/W | 0.8351 | likely_pathogenic | 0.876 | pathogenic | -1.241 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| G/Y | 0.8178 | likely_pathogenic | 0.8616 | pathogenic | -0.866 | Destabilizing | 1.0 | D | 0.745 | 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.