Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5221 | 15886;15887;15888 | chr2:178733728;178733727;178733726 | chr2:179598455;179598454;179598453 |
| N2AB | 4904 | 14935;14936;14937 | chr2:178733728;178733727;178733726 | chr2:179598455;179598454;179598453 |
| N2A | 3977 | 12154;12155;12156 | chr2:178733728;178733727;178733726 | chr2:179598455;179598454;179598453 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/A | rs771186700  |
-0.182 | 0.939 | D | 0.574 | 0.378 | 0.470237251169 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/A | rs771186700 |
-0.182 | 0.939 | D | 0.574 | 0.378 | 0.470237251169 | gnomAD-4.0.0 | 6.8419E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 0 |
| G/D | None | -0.252 | 0.885 | D | 0.65 | 0.388 | 0.523806315272 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| G/D | None | -0.252 | 0.885 | D | 0.65 | 0.388 | 0.523806315272 | 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 |
| G/D | None | -0.252 | 0.885 | D | 0.65 | 0.388 | 0.523806315272 | gnomAD-4.0.0 | 1.23935E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69521E-05 | 0 | 0 |
| G/V | rs771186700 |
-0.069 | 0.885 | D | 0.681 | 0.424 | 0.717421235427 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| G/V | rs771186700 |
-0.069 | 0.885 | D | 0.681 | 0.424 | 0.717421235427 | 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 |
| G/V | rs771186700 |
-0.069 | 0.885 | D | 0.681 | 0.424 | 0.717421235427 | gnomAD-4.0.0 | 1.79706E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.45805E-05 | 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 | 0.1446 | likely_benign | 0.1813 | benign | -0.295 | Destabilizing | 0.939 | D | 0.574 | neutral | D | 0.57564178 | None | None | N |
| G/C | 0.2434 | likely_benign | 0.3116 | benign | -0.809 | Destabilizing | 0.999 | D | 0.736 | prob.delet. | D | 0.732107347 | None | None | N |
| G/D | 0.1873 | likely_benign | 0.2099 | benign | -0.173 | Destabilizing | 0.885 | D | 0.65 | neutral | D | 0.554399517 | None | None | N |
| G/E | 0.2169 | likely_benign | 0.2591 | benign | -0.252 | Destabilizing | 0.986 | D | 0.663 | neutral | None | None | None | None | N |
| G/F | 0.6313 | likely_pathogenic | 0.7091 | pathogenic | -0.717 | Destabilizing | 0.993 | D | 0.753 | deleterious | None | None | None | None | N |
| G/H | 0.2982 | likely_benign | 0.3575 | ambiguous | -0.772 | Destabilizing | 0.998 | D | 0.717 | prob.delet. | None | None | None | None | N |
| G/I | 0.496 | ambiguous | 0.5803 | pathogenic | -0.069 | Destabilizing | 0.386 | N | 0.552 | neutral | None | None | None | None | N |
| G/K | 0.3289 | likely_benign | 0.4015 | ambiguous | -0.78 | Destabilizing | 0.986 | D | 0.665 | neutral | None | None | None | None | N |
| G/L | 0.502 | ambiguous | 0.6015 | pathogenic | -0.069 | Destabilizing | 0.91 | D | 0.678 | prob.neutral | None | None | None | None | N |
| G/M | 0.5165 | ambiguous | 0.5912 | pathogenic | -0.299 | Destabilizing | 0.998 | D | 0.735 | prob.delet. | None | None | None | None | N |
| G/N | 0.182 | likely_benign | 0.2093 | benign | -0.51 | Destabilizing | 0.06 | N | 0.322 | neutral | None | None | None | None | N |
| G/P | 0.9108 | likely_pathogenic | 0.9543 | pathogenic | -0.103 | Destabilizing | 0.998 | D | 0.733 | prob.delet. | None | None | None | None | N |
| G/Q | 0.2557 | likely_benign | 0.3003 | benign | -0.627 | Destabilizing | 0.993 | D | 0.74 | deleterious | None | None | None | None | N |
| G/R | 0.2102 | likely_benign | 0.2628 | benign | -0.565 | Destabilizing | 0.982 | D | 0.726 | prob.delet. | D | 0.536866685 | None | None | N |
| G/S | 0.095 | likely_benign | 0.1095 | benign | -0.793 | Destabilizing | 0.885 | D | 0.596 | neutral | N | 0.509203528 | None | None | N |
| G/T | 0.2025 | likely_benign | 0.2447 | benign | -0.767 | Destabilizing | 0.986 | D | 0.663 | neutral | None | None | None | None | N |
| G/V | 0.3569 | ambiguous | 0.4479 | ambiguous | -0.103 | Destabilizing | 0.885 | D | 0.681 | prob.neutral | D | 0.730569947 | None | None | N |
| G/W | 0.4746 | ambiguous | 0.5628 | ambiguous | -1.029 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | None | N |
| G/Y | 0.4161 | ambiguous | 0.4967 | ambiguous | -0.585 | Destabilizing | 0.998 | D | 0.747 | 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.