Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20904 | 62935;62936;62937 | chr2:178589015;178589014;178589013 | chr2:179453742;179453741;179453740 |
| N2AB | 19263 | 58012;58013;58014 | chr2:178589015;178589014;178589013 | chr2:179453742;179453741;179453740 |
| N2A | 18336 | 55231;55232;55233 | chr2:178589015;178589014;178589013 | chr2:179453742;179453741;179453740 |
| N2B | 11839 | 35740;35741;35742 | chr2:178589015;178589014;178589013 | chr2:179453742;179453741;179453740 |
| Novex-1 | 11964 | 36115;36116;36117 | chr2:178589015;178589014;178589013 | chr2:179453742;179453741;179453740 |
| Novex-2 | 12031 | 36316;36317;36318 | chr2:178589015;178589014;178589013 | chr2:179453742;179453741;179453740 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/S | rs866862450  |
-1.617 | 0.904 | N | 0.645 | 0.388 | 0.566408210792 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.97E-06 | 0 |
| C/S | rs866862450 |
-1.617 | 0.904 | N | 0.645 | 0.388 | 0.566408210792 | gnomAD-4.0.0 | 1.59817E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86115E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7259 | likely_pathogenic | 0.7402 | pathogenic | -1.36 | Destabilizing | 0.717 | D | 0.551 | neutral | None | None | None | None | N |
| C/D | 0.9914 | likely_pathogenic | 0.9937 | pathogenic | -1.341 | Destabilizing | 0.993 | D | 0.771 | deleterious | None | None | None | None | N |
| C/E | 0.9866 | likely_pathogenic | 0.9891 | pathogenic | -1.095 | Destabilizing | 0.978 | D | 0.765 | deleterious | None | None | None | None | N |
| C/F | 0.7425 | likely_pathogenic | 0.7866 | pathogenic | -0.849 | Destabilizing | 0.942 | D | 0.697 | prob.neutral | N | 0.507224445 | None | None | N |
| C/G | 0.5811 | likely_pathogenic | 0.6051 | pathogenic | -1.694 | Destabilizing | 0.97 | D | 0.736 | prob.delet. | N | 0.483597236 | None | None | N |
| C/H | 0.9019 | likely_pathogenic | 0.9387 | pathogenic | -1.962 | Destabilizing | 0.998 | D | 0.757 | deleterious | None | None | None | None | N |
| C/I | 0.9447 | likely_pathogenic | 0.9493 | pathogenic | -0.451 | Destabilizing | 0.754 | D | 0.636 | neutral | None | None | None | None | N |
| C/K | 0.9409 | likely_pathogenic | 0.9596 | pathogenic | -0.721 | Destabilizing | 0.978 | D | 0.768 | deleterious | None | None | None | None | N |
| C/L | 0.859 | likely_pathogenic | 0.8574 | pathogenic | -0.451 | Destabilizing | 0.019 | N | 0.385 | neutral | None | None | None | None | N |
| C/M | 0.8518 | likely_pathogenic | 0.8557 | pathogenic | -0.116 | Destabilizing | 0.956 | D | 0.666 | neutral | None | None | None | None | N |
| C/N | 0.9145 | likely_pathogenic | 0.935 | pathogenic | -1.345 | Destabilizing | 0.993 | D | 0.775 | deleterious | None | None | None | None | N |
| C/P | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -0.734 | Destabilizing | 0.993 | D | 0.775 | deleterious | None | None | None | None | N |
| C/Q | 0.8571 | likely_pathogenic | 0.8823 | pathogenic | -0.821 | Destabilizing | 0.993 | D | 0.768 | deleterious | None | None | None | None | N |
| C/R | 0.6583 | likely_pathogenic | 0.7224 | pathogenic | -1.323 | Destabilizing | 0.97 | D | 0.776 | deleterious | N | 0.409463038 | None | None | N |
| C/S | 0.7556 | likely_pathogenic | 0.7978 | pathogenic | -1.567 | Destabilizing | 0.904 | D | 0.645 | neutral | N | 0.47130093 | None | None | N |
| C/T | 0.8835 | likely_pathogenic | 0.9037 | pathogenic | -1.151 | Destabilizing | 0.86 | D | 0.636 | neutral | None | None | None | None | N |
| C/V | 0.8409 | likely_pathogenic | 0.8465 | pathogenic | -0.734 | Destabilizing | 0.754 | D | 0.585 | neutral | None | None | None | None | N |
| C/W | 0.9341 | likely_pathogenic | 0.9562 | pathogenic | -1.309 | Destabilizing | 0.997 | D | 0.707 | prob.neutral | N | 0.513899701 | None | None | N |
| C/Y | 0.7958 | likely_pathogenic | 0.8462 | pathogenic | -1.042 | Destabilizing | 0.97 | D | 0.701 | prob.neutral | N | 0.504722858 | 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.