Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27460 | 82603;82604;82605 | chr2:178563754;178563753;178563752 | chr2:179428481;179428480;179428479 |
| N2AB | 25819 | 77680;77681;77682 | chr2:178563754;178563753;178563752 | chr2:179428481;179428480;179428479 |
| N2A | 24892 | 74899;74900;74901 | chr2:178563754;178563753;178563752 | chr2:179428481;179428480;179428479 |
| N2B | 18395 | 55408;55409;55410 | chr2:178563754;178563753;178563752 | chr2:179428481;179428480;179428479 |
| Novex-1 | 18520 | 55783;55784;55785 | chr2:178563754;178563753;178563752 | chr2:179428481;179428480;179428479 |
| Novex-2 | 18587 | 55984;55985;55986 | chr2:178563754;178563753;178563752 | chr2:179428481;179428480;179428479 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs1043329468  |
-0.369 | 0.657 | N | 0.658 | 0.254 | 0.367425347029 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs1043329468 |
-0.369 | 0.657 | N | 0.658 | 0.254 | 0.367425347029 | gnomAD-4.0.0 | 3.09872E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69526E-06 | 3.29381E-05 | 0 |
| P/T | rs1043329468 |
None | 0.931 | N | 0.691 | 0.287 | 0.441740949975 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | rs1043329468 |
None | 0.931 | N | 0.691 | 0.287 | 0.441740949975 | gnomAD-4.0.0 | 1.23949E-06 | None | None | None | None | N | None | 2.6703E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0653 | likely_benign | 0.0686 | benign | -0.551 | Destabilizing | 0.049 | N | 0.392 | neutral | N | 0.492188783 | None | None | N |
| P/C | 0.3805 | ambiguous | 0.4226 | ambiguous | -0.72 | Destabilizing | 0.998 | D | 0.759 | deleterious | None | None | None | None | N |
| P/D | 0.5641 | likely_pathogenic | 0.6019 | pathogenic | -0.233 | Destabilizing | 0.973 | D | 0.656 | prob.neutral | None | None | None | None | N |
| P/E | 0.3145 | likely_benign | 0.3539 | ambiguous | -0.33 | Destabilizing | 0.947 | D | 0.689 | prob.delet. | None | None | None | None | N |
| P/F | 0.4501 | ambiguous | 0.4994 | ambiguous | -0.639 | Destabilizing | 0.998 | D | 0.753 | deleterious | None | None | None | None | N |
| P/G | 0.3201 | likely_benign | 0.3411 | ambiguous | -0.707 | Destabilizing | 0.835 | D | 0.635 | neutral | None | None | None | None | N |
| P/H | 0.2479 | likely_benign | 0.2768 | benign | -0.189 | Destabilizing | 0.99 | D | 0.742 | deleterious | D | 0.540397169 | None | None | N |
| P/I | 0.2504 | likely_benign | 0.2585 | benign | -0.284 | Destabilizing | 0.973 | D | 0.783 | deleterious | None | None | None | None | N |
| P/K | 0.3322 | likely_benign | 0.3698 | ambiguous | -0.513 | Destabilizing | 0.717 | D | 0.658 | prob.neutral | None | None | None | None | N |
| P/L | 0.1359 | likely_benign | 0.1484 | benign | -0.284 | Destabilizing | 0.931 | D | 0.707 | prob.delet. | N | 0.508655202 | None | None | N |
| P/M | 0.2733 | likely_benign | 0.2931 | benign | -0.385 | Destabilizing | 0.998 | D | 0.748 | deleterious | None | None | None | None | N |
| P/N | 0.3888 | ambiguous | 0.426 | ambiguous | -0.312 | Destabilizing | 0.947 | D | 0.777 | deleterious | None | None | None | None | N |
| P/Q | 0.2048 | likely_benign | 0.2344 | benign | -0.532 | Destabilizing | 0.947 | D | 0.679 | prob.neutral | None | None | None | None | N |
| P/R | 0.2462 | likely_benign | 0.2723 | benign | 0.009 | Stabilizing | 0.027 | N | 0.505 | neutral | N | 0.48046209 | None | None | N |
| P/S | 0.1378 | likely_benign | 0.1531 | benign | -0.715 | Destabilizing | 0.657 | D | 0.658 | prob.neutral | N | 0.491284963 | None | None | N |
| P/T | 0.1084 | likely_benign | 0.1158 | benign | -0.707 | Destabilizing | 0.931 | D | 0.691 | prob.delet. | N | 0.493905082 | None | None | N |
| P/V | 0.176 | likely_benign | 0.1817 | benign | -0.337 | Destabilizing | 0.947 | D | 0.625 | neutral | None | None | None | None | N |
| P/W | 0.6419 | likely_pathogenic | 0.7003 | pathogenic | -0.719 | Destabilizing | 0.998 | D | 0.657 | prob.neutral | None | None | None | None | N |
| P/Y | 0.4851 | ambiguous | 0.5324 | ambiguous | -0.426 | Destabilizing | 0.998 | D | 0.758 | 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.