Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23045 | 69358;69359;69360 | chr2:178577202;178577201;178577200 | chr2:179441929;179441928;179441927 |
| N2AB | 21404 | 64435;64436;64437 | chr2:178577202;178577201;178577200 | chr2:179441929;179441928;179441927 |
| N2A | 20477 | 61654;61655;61656 | chr2:178577202;178577201;178577200 | chr2:179441929;179441928;179441927 |
| N2B | 13980 | 42163;42164;42165 | chr2:178577202;178577201;178577200 | chr2:179441929;179441928;179441927 |
| Novex-1 | 14105 | 42538;42539;42540 | chr2:178577202;178577201;178577200 | chr2:179441929;179441928;179441927 |
| Novex-2 | 14172 | 42739;42740;42741 | chr2:178577202;178577201;178577200 | chr2:179441929;179441928;179441927 |
| 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/S | rs762347167  |
-0.912 | 1.0 | N | 0.747 | 0.381 | 0.307016933798 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs762347167 |
-0.912 | 1.0 | N | 0.747 | 0.381 | 0.307016933798 | 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 |
| G/S | rs762347167 |
-0.912 | 1.0 | N | 0.747 | 0.381 | 0.307016933798 | gnomAD-4.0.0 | 2.56508E-06 | None | None | None | None | N | None | 3.38776E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2768 | likely_benign | 0.2656 | benign | -0.725 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | N | 0.468330591 | None | None | N |
| G/C | 0.4949 | ambiguous | 0.4917 | ambiguous | -0.881 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.525810135 | None | None | N |
| G/D | 0.8238 | likely_pathogenic | 0.8591 | pathogenic | -1.718 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.477484851 | None | None | N |
| G/E | 0.6969 | likely_pathogenic | 0.7393 | pathogenic | -1.726 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| G/F | 0.8364 | likely_pathogenic | 0.8467 | pathogenic | -0.963 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| G/H | 0.8718 | likely_pathogenic | 0.8885 | pathogenic | -1.643 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| G/I | 0.7058 | likely_pathogenic | 0.7333 | pathogenic | -0.192 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/K | 0.8574 | likely_pathogenic | 0.8621 | pathogenic | -1.548 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| G/L | 0.7135 | likely_pathogenic | 0.7402 | pathogenic | -0.192 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| G/M | 0.7837 | likely_pathogenic | 0.8022 | pathogenic | -0.161 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/N | 0.8224 | likely_pathogenic | 0.8403 | pathogenic | -1.276 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| G/P | 0.9655 | likely_pathogenic | 0.9821 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/Q | 0.7284 | likely_pathogenic | 0.7387 | pathogenic | -1.381 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/R | 0.7661 | likely_pathogenic | 0.7649 | pathogenic | -1.28 | Destabilizing | 1.0 | D | 0.829 | deleterious | N | 0.486457619 | None | None | N |
| G/S | 0.2699 | likely_benign | 0.2704 | benign | -1.453 | Destabilizing | 1.0 | D | 0.747 | deleterious | N | 0.477734659 | None | None | N |
| G/T | 0.5364 | ambiguous | 0.5703 | pathogenic | -1.385 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| G/V | 0.5852 | likely_pathogenic | 0.6064 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.502425961 | None | None | N |
| G/W | 0.8352 | likely_pathogenic | 0.846 | pathogenic | -1.496 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| G/Y | 0.8225 | likely_pathogenic | 0.8317 | pathogenic | -1.026 | Destabilizing | 1.0 | D | 0.805 | 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.