Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9400 | 28423;28424;28425 | chr2:178710899;178710898;178710897 | chr2:179575626;179575625;179575624 |
| N2AB | 9083 | 27472;27473;27474 | chr2:178710899;178710898;178710897 | chr2:179575626;179575625;179575624 |
| N2A | 8156 | 24691;24692;24693 | chr2:178710899;178710898;178710897 | chr2:179575626;179575625;179575624 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs1254441947  |
-0.803 | 0.998 | None | 0.683 | 0.452 | 0.254761474806 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| D/G | rs1254441947 |
-0.803 | 0.998 | None | 0.683 | 0.452 | 0.254761474806 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| D/G | rs1254441947 |
-0.803 | 0.998 | None | 0.683 | 0.452 | 0.254761474806 | gnomAD-4.0.0 | 1.23978E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69588E-05 | 0 | 0 |
| D/H | None | None | 1.0 | None | 0.696 | 0.408 | 0.250579442822 | gnomAD-4.0.0 | 6.84467E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99857E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.6842 | likely_pathogenic | 0.7239 | pathogenic | -0.463 | Destabilizing | 0.999 | D | 0.706 | prob.neutral | None | None | None | None | I |
| D/C | 0.9645 | likely_pathogenic | 0.9733 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| D/E | 0.6085 | likely_pathogenic | 0.6643 | pathogenic | -0.58 | Destabilizing | 0.999 | D | 0.416 | neutral | None | None | None | None | I |
| D/F | 0.9465 | likely_pathogenic | 0.9581 | pathogenic | 0.238 | Stabilizing | 0.999 | D | 0.76 | deleterious | None | None | None | None | I |
| D/G | 0.619 | likely_pathogenic | 0.6685 | pathogenic | -0.87 | Destabilizing | 0.998 | D | 0.683 | prob.neutral | None | None | None | None | I |
| D/H | 0.7064 | likely_pathogenic | 0.7709 | pathogenic | -0.085 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | I |
| D/I | 0.8515 | likely_pathogenic | 0.8753 | pathogenic | 0.633 | Stabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| D/K | 0.8646 | likely_pathogenic | 0.8991 | pathogenic | -0.746 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | I |
| D/L | 0.8422 | likely_pathogenic | 0.8786 | pathogenic | 0.633 | Stabilizing | 0.999 | D | 0.736 | prob.delet. | None | None | None | None | I |
| D/M | 0.9575 | likely_pathogenic | 0.9683 | pathogenic | 1.087 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| D/N | 0.2698 | likely_benign | 0.3227 | benign | -1.229 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | I |
| D/P | 0.9649 | likely_pathogenic | 0.9697 | pathogenic | 0.293 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| D/Q | 0.8251 | likely_pathogenic | 0.8655 | pathogenic | -1.003 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | I |
| D/R | 0.8512 | likely_pathogenic | 0.8859 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | I |
| D/S | 0.4281 | ambiguous | 0.4806 | ambiguous | -1.56 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| D/T | 0.7151 | likely_pathogenic | 0.7637 | pathogenic | -1.223 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | I |
| D/V | 0.6998 | likely_pathogenic | 0.7392 | pathogenic | 0.293 | Stabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | I |
| D/W | 0.9875 | likely_pathogenic | 0.9912 | pathogenic | 0.392 | Stabilizing | 0.844 | D | 0.487 | neutral | None | None | None | None | I |
| D/Y | 0.694 | likely_pathogenic | 0.7516 | pathogenic | 0.448 | Stabilizing | 0.999 | D | 0.758 | deleterious | None | None | None | None | I |
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.