Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29496 | 88711;88712;88713 | chr2:178554973;178554972;178554971 | chr2:179419700;179419699;179419698 |
| N2AB | 27855 | 83788;83789;83790 | chr2:178554973;178554972;178554971 | chr2:179419700;179419699;179419698 |
| N2A | 26928 | 81007;81008;81009 | chr2:178554973;178554972;178554971 | chr2:179419700;179419699;179419698 |
| N2B | 20431 | 61516;61517;61518 | chr2:178554973;178554972;178554971 | chr2:179419700;179419699;179419698 |
| Novex-1 | 20556 | 61891;61892;61893 | chr2:178554973;178554972;178554971 | chr2:179419700;179419699;179419698 |
| Novex-2 | 20623 | 62092;62093;62094 | chr2:178554973;178554972;178554971 | chr2:179419700;179419699;179419698 |
| 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/S | None | None | 0.226 | N | 0.505 | 0.076 | 0.17258766438 | gnomAD-4.0.0 | 6.84267E-07 | None | None | None | None | N | None | 2.98721E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs751491298  |
-1.362 | 0.214 | N | 0.391 | 0.074 | 0.214338557667 | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | N | None | 4.14E-05 | 0 | None | 0 | 0 | None | 2.28788E-04 | None | 0 | 7.83E-06 | 0 |
| A/T | rs751491298 |
-1.362 | 0.214 | N | 0.391 | 0.074 | 0.214338557667 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 1.92976E-04 | None | 0 | 0 | 0 | 4.14594E-04 | 0 |
| A/T | rs751491298 |
-1.362 | 0.214 | N | 0.391 | 0.074 | 0.214338557667 | gnomAD-4.0.0 | 1.23946E-05 | None | None | None | None | N | None | 3.99925E-05 | 0 | None | 0 | 2.23424E-05 | None | 0 | 0 | 8.47617E-07 | 1.31761E-04 | 4.80231E-05 |
| A/V | None | None | 0.896 | N | 0.684 | 0.294 | 0.355450299083 | gnomAD-4.0.0 | 3.60101E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.93756E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5933 | likely_pathogenic | 0.6031 | pathogenic | -0.962 | Destabilizing | 0.999 | D | 0.748 | deleterious | None | None | None | None | N |
| A/D | 0.97 | likely_pathogenic | 0.9613 | pathogenic | -1.359 | Destabilizing | 0.976 | D | 0.769 | deleterious | None | None | None | None | N |
| A/E | 0.9591 | likely_pathogenic | 0.9489 | pathogenic | -1.172 | Destabilizing | 0.896 | D | 0.744 | deleterious | N | 0.50025004 | None | None | N |
| A/F | 0.8608 | likely_pathogenic | 0.8384 | pathogenic | -0.551 | Destabilizing | 0.996 | D | 0.753 | deleterious | None | None | None | None | N |
| A/G | 0.3421 | ambiguous | 0.32 | benign | -1.255 | Destabilizing | 0.811 | D | 0.673 | neutral | N | 0.420538462 | None | None | N |
| A/H | 0.9577 | likely_pathogenic | 0.9523 | pathogenic | -1.726 | Destabilizing | 0.999 | D | 0.758 | deleterious | None | None | None | None | N |
| A/I | 0.7312 | likely_pathogenic | 0.7094 | pathogenic | 0.532 | Stabilizing | 0.976 | D | 0.772 | deleterious | None | None | None | None | N |
| A/K | 0.9865 | likely_pathogenic | 0.9821 | pathogenic | -0.788 | Destabilizing | 0.919 | D | 0.751 | deleterious | None | None | None | None | N |
| A/L | 0.6026 | likely_pathogenic | 0.5913 | pathogenic | 0.532 | Stabilizing | 0.919 | D | 0.729 | prob.delet. | None | None | None | None | N |
| A/M | 0.7047 | likely_pathogenic | 0.6866 | pathogenic | 0.202 | Stabilizing | 0.999 | D | 0.741 | deleterious | None | None | None | None | N |
| A/N | 0.9198 | likely_pathogenic | 0.9123 | pathogenic | -1.007 | Destabilizing | 0.976 | D | 0.771 | deleterious | None | None | None | None | N |
| A/P | 0.9651 | likely_pathogenic | 0.951 | pathogenic | 0.147 | Stabilizing | 0.994 | D | 0.77 | deleterious | N | 0.50025004 | None | None | N |
| A/Q | 0.9357 | likely_pathogenic | 0.9275 | pathogenic | -0.787 | Destabilizing | 0.988 | D | 0.771 | deleterious | None | None | None | None | N |
| A/R | 0.9716 | likely_pathogenic | 0.9654 | pathogenic | -1.029 | Destabilizing | 0.976 | D | 0.765 | deleterious | None | None | None | None | N |
| A/S | 0.1957 | likely_benign | 0.203 | benign | -1.536 | Destabilizing | 0.226 | N | 0.505 | neutral | N | 0.346443348 | None | None | N |
| A/T | 0.1858 | likely_benign | 0.1756 | benign | -1.193 | Destabilizing | 0.214 | N | 0.391 | neutral | N | 0.380710638 | None | None | N |
| A/V | 0.3708 | ambiguous | 0.3413 | ambiguous | 0.147 | Stabilizing | 0.896 | D | 0.684 | prob.neutral | N | 0.480104054 | None | None | N |
| A/W | 0.9842 | likely_pathogenic | 0.9814 | pathogenic | -1.241 | Destabilizing | 0.999 | D | 0.781 | deleterious | None | None | None | None | N |
| A/Y | 0.9319 | likely_pathogenic | 0.9224 | pathogenic | -0.626 | Destabilizing | 0.996 | D | 0.769 | 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.