Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30491 | 91696;91697;91698 | chr2:178551060;178551059;178551058 | chr2:179415787;179415786;179415785 |
| N2AB | 28850 | 86773;86774;86775 | chr2:178551060;178551059;178551058 | chr2:179415787;179415786;179415785 |
| N2A | 27923 | 83992;83993;83994 | chr2:178551060;178551059;178551058 | chr2:179415787;179415786;179415785 |
| N2B | 21426 | 64501;64502;64503 | chr2:178551060;178551059;178551058 | chr2:179415787;179415786;179415785 |
| Novex-1 | 21551 | 64876;64877;64878 | chr2:178551060;178551059;178551058 | chr2:179415787;179415786;179415785 |
| Novex-2 | 21618 | 65077;65078;65079 | chr2:178551060;178551059;178551058 | chr2:179415787;179415786;179415785 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs1699239943  |
None | 1.0 | N | 0.766 | 0.474 | 0.521546690486 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/C | rs1699239943 |
None | 1.0 | N | 0.766 | 0.474 | 0.521546690486 | gnomAD-4.0.0 | 3.09954E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.391E-06 | 1.09856E-05 | 0 |
| R/G | None | None | 1.0 | N | 0.723 | 0.454 | 0.45461005305 | gnomAD-4.0.0 | 2.73776E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.64016E-05 | 0 |
| R/H | rs765777852 |
-1.186 | 1.0 | N | 0.725 | 0.409 | 0.27855597813 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 1.24275E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.84E-06 | 0 |
| R/H | rs765777852 |
-1.186 | 1.0 | N | 0.725 | 0.409 | 0.27855597813 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/H | rs765777852 |
-1.186 | 1.0 | N | 0.725 | 0.409 | 0.27855597813 | gnomAD-4.0.0 | 4.95925E-06 | None | None | None | None | N | None | 6.67789E-05 | 3.33667E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60205E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.5107 | ambiguous | 0.5806 | pathogenic | -0.257 | Destabilizing | 0.999 | D | 0.657 | neutral | None | None | None | None | N |
| R/C | 0.2518 | likely_benign | 0.2988 | benign | -0.17 | Destabilizing | 1.0 | D | 0.766 | deleterious | N | 0.511843618 | None | None | N |
| R/D | 0.7861 | likely_pathogenic | 0.817 | pathogenic | 0.097 | Stabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| R/E | 0.4837 | ambiguous | 0.5417 | ambiguous | 0.221 | Stabilizing | 0.999 | D | 0.653 | neutral | None | None | None | None | N |
| R/F | 0.7073 | likely_pathogenic | 0.7535 | pathogenic | -0.133 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| R/G | 0.4138 | ambiguous | 0.5015 | ambiguous | -0.554 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | N | 0.475152099 | None | None | N |
| R/H | 0.1477 | likely_benign | 0.174 | benign | -1.112 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.511150185 | None | None | N |
| R/I | 0.3772 | ambiguous | 0.4288 | ambiguous | 0.526 | Stabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| R/K | 0.1335 | likely_benign | 0.1502 | benign | -0.18 | Destabilizing | 0.998 | D | 0.519 | neutral | None | None | None | None | N |
| R/L | 0.3663 | ambiguous | 0.4188 | ambiguous | 0.526 | Stabilizing | 1.0 | D | 0.723 | prob.delet. | N | 0.479384483 | None | None | N |
| R/M | 0.3847 | ambiguous | 0.4508 | ambiguous | 0.029 | Stabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| R/N | 0.6654 | likely_pathogenic | 0.7064 | pathogenic | 0.192 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| R/P | 0.7103 | likely_pathogenic | 0.7412 | pathogenic | 0.288 | Stabilizing | 1.0 | D | 0.768 | deleterious | N | 0.476152177 | None | None | N |
| R/Q | 0.1316 | likely_benign | 0.1498 | benign | 0.12 | Stabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| R/S | 0.5627 | ambiguous | 0.6283 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.435497633 | None | None | N |
| R/T | 0.2991 | likely_benign | 0.3578 | ambiguous | -0.044 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| R/V | 0.4425 | ambiguous | 0.4981 | ambiguous | 0.288 | Stabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| R/W | 0.327 | likely_benign | 0.3844 | ambiguous | 0.019 | Stabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| R/Y | 0.5133 | ambiguous | 0.5666 | pathogenic | 0.361 | Stabilizing | 1.0 | D | 0.77 | 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.