Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16018 | 48277;48278;48279 | chr2:178616837;178616836;178616835 | chr2:179481564;179481563;179481562 |
| N2AB | 14377 | 43354;43355;43356 | chr2:178616837;178616836;178616835 | chr2:179481564;179481563;179481562 |
| N2A | 13450 | 40573;40574;40575 | chr2:178616837;178616836;178616835 | chr2:179481564;179481563;179481562 |
| N2B | 6953 | 21082;21083;21084 | chr2:178616837;178616836;178616835 | chr2:179481564;179481563;179481562 |
| Novex-1 | 7078 | 21457;21458;21459 | chr2:178616837;178616836;178616835 | chr2:179481564;179481563;179481562 |
| Novex-2 | 7145 | 21658;21659;21660 | chr2:178616837;178616836;178616835 | chr2:179481564;179481563;179481562 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs1366008715  |
-1.455 | 0.98 | N | 0.717 | 0.279 | 0.316198179892 | gnomAD-2.1.1 | 7.17E-06 | None | None | None | None | N | None | 8.28E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/G | rs1366008715 |
-1.455 | 0.98 | N | 0.717 | 0.279 | 0.316198179892 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | rs1366008715 |
-1.455 | 0.98 | N | 0.717 | 0.279 | 0.316198179892 | gnomAD-4.0.0 | 5.13222E-06 | None | None | None | None | N | None | 6.78242E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | rs1451009964 |
-1.351 | 0.925 | N | 0.69 | 0.13 | 0.254761474806 | gnomAD-2.1.1 | 7.17E-06 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/S | rs1451009964 |
-1.351 | 0.925 | N | 0.69 | 0.13 | 0.254761474806 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | rs1451009964 |
-1.351 | 0.925 | N | 0.69 | 0.13 | 0.254761474806 | gnomAD-4.0.0 | 5.13181E-06 | None | None | None | None | N | None | 6.77874E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4031 | ambiguous | 0.4145 | ambiguous | -0.766 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| A/D | 0.8816 | likely_pathogenic | 0.8992 | pathogenic | -2.362 | Highly Destabilizing | 0.994 | D | 0.779 | deleterious | N | 0.472362325 | None | None | N |
| A/E | 0.8076 | likely_pathogenic | 0.8409 | pathogenic | -2.059 | Highly Destabilizing | 0.985 | D | 0.788 | deleterious | None | None | None | None | N |
| A/F | 0.6839 | likely_pathogenic | 0.7173 | pathogenic | -0.464 | Destabilizing | 0.996 | D | 0.795 | deleterious | None | None | None | None | N |
| A/G | 0.3508 | ambiguous | 0.3566 | ambiguous | -1.542 | Destabilizing | 0.98 | D | 0.717 | prob.delet. | N | 0.509244019 | None | None | N |
| A/H | 0.8188 | likely_pathogenic | 0.8345 | pathogenic | -2.195 | Highly Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| A/I | 0.3743 | ambiguous | 0.4222 | ambiguous | 0.623 | Stabilizing | 0.942 | D | 0.754 | deleterious | None | None | None | None | N |
| A/K | 0.9257 | likely_pathogenic | 0.9307 | pathogenic | -0.806 | Destabilizing | 0.991 | D | 0.795 | deleterious | None | None | None | None | N |
| A/L | 0.3195 | likely_benign | 0.3689 | ambiguous | 0.623 | Stabilizing | 0.871 | D | 0.726 | prob.delet. | None | None | None | None | N |
| A/M | 0.3665 | ambiguous | 0.4157 | ambiguous | 0.187 | Stabilizing | 0.996 | D | 0.764 | deleterious | None | None | None | None | N |
| A/N | 0.7349 | likely_pathogenic | 0.762 | pathogenic | -1.414 | Destabilizing | 0.996 | D | 0.788 | deleterious | None | None | None | None | N |
| A/P | 0.9415 | likely_pathogenic | 0.9429 | pathogenic | 0.133 | Stabilizing | 0.998 | D | 0.786 | deleterious | N | 0.511882949 | None | None | N |
| A/Q | 0.7579 | likely_pathogenic | 0.7777 | pathogenic | -0.995 | Destabilizing | 0.999 | D | 0.797 | deleterious | None | None | None | None | N |
| A/R | 0.847 | likely_pathogenic | 0.8583 | pathogenic | -1.295 | Destabilizing | 0.996 | D | 0.799 | deleterious | None | None | None | None | N |
| A/S | 0.1422 | likely_benign | 0.151 | benign | -1.765 | Destabilizing | 0.925 | D | 0.69 | prob.neutral | N | 0.443725082 | None | None | N |
| A/T | 0.0881 | likely_benign | 0.1051 | benign | -1.31 | Destabilizing | 0.122 | N | 0.417 | neutral | N | 0.412140846 | None | None | N |
| A/V | 0.1613 | likely_benign | 0.1849 | benign | 0.133 | Stabilizing | 0.122 | N | 0.417 | neutral | N | 0.464662769 | None | None | N |
| A/W | 0.9269 | likely_pathogenic | 0.9373 | pathogenic | -1.358 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| A/Y | 0.8159 | likely_pathogenic | 0.8312 | pathogenic | -0.753 | Destabilizing | 0.999 | D | 0.773 | 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.