Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23069 | 69430;69431;69432 | chr2:178577130;178577129;178577128 | chr2:179441857;179441856;179441855 |
| N2AB | 21428 | 64507;64508;64509 | chr2:178577130;178577129;178577128 | chr2:179441857;179441856;179441855 |
| N2A | 20501 | 61726;61727;61728 | chr2:178577130;178577129;178577128 | chr2:179441857;179441856;179441855 |
| N2B | 14004 | 42235;42236;42237 | chr2:178577130;178577129;178577128 | chr2:179441857;179441856;179441855 |
| Novex-1 | 14129 | 42610;42611;42612 | chr2:178577130;178577129;178577128 | chr2:179441857;179441856;179441855 |
| Novex-2 | 14196 | 42811;42812;42813 | chr2:178577130;178577129;178577128 | chr2:179441857;179441856;179441855 |
| 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 | rs183977969  |
-0.372 | 0.917 | N | 0.64 | 0.434 | None | gnomAD-2.1.1 | 4.84E-05 | None | None | None | None | I | None | 0 | 1.44995E-04 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 5.35E-05 | 0 |
| G/S | rs183977969 |
-0.372 | 0.917 | N | 0.64 | 0.434 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 0 | 1.31458E-04 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| G/S | rs183977969 |
-0.372 | 0.917 | N | 0.64 | 0.434 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/S | rs183977969 |
-0.372 | 0.917 | N | 0.64 | 0.434 | None | gnomAD-4.0.0 | 2.16979E-05 | None | None | None | None | I | None | 0 | 1.16776E-04 | None | 0 | 0 | None | 0 | 0 | 2.37388E-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 | 0.7464 | likely_pathogenic | 0.771 | pathogenic | -0.165 | Destabilizing | 0.969 | D | 0.493 | neutral | N | 0.518441345 | None | None | I |
| G/C | 0.702 | likely_pathogenic | 0.7419 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.534116518 | None | None | I |
| G/D | 0.946 | likely_pathogenic | 0.9231 | pathogenic | -0.315 | Destabilizing | 0.996 | D | 0.701 | prob.neutral | D | 0.523885848 | None | None | I |
| G/E | 0.9603 | likely_pathogenic | 0.9523 | pathogenic | -0.472 | Destabilizing | 0.997 | D | 0.784 | deleterious | None | None | None | None | I |
| G/F | 0.9725 | likely_pathogenic | 0.9654 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/H | 0.9617 | likely_pathogenic | 0.9447 | pathogenic | -0.298 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/I | 0.9703 | likely_pathogenic | 0.97 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/K | 0.9702 | likely_pathogenic | 0.9596 | pathogenic | -0.533 | Destabilizing | 0.993 | D | 0.786 | deleterious | None | None | None | None | I |
| G/L | 0.9579 | likely_pathogenic | 0.9519 | pathogenic | -0.389 | Destabilizing | 0.997 | D | 0.791 | deleterious | None | None | None | None | I |
| G/M | 0.9693 | likely_pathogenic | 0.9664 | pathogenic | -0.517 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/N | 0.8905 | likely_pathogenic | 0.8457 | pathogenic | -0.234 | Destabilizing | 0.993 | D | 0.701 | prob.neutral | None | None | None | None | I |
| G/P | 0.9985 | likely_pathogenic | 0.9983 | pathogenic | -0.287 | Destabilizing | 0.998 | D | 0.799 | deleterious | None | None | None | None | I |
| G/Q | 0.9416 | likely_pathogenic | 0.923 | pathogenic | -0.481 | Destabilizing | 0.999 | D | 0.817 | deleterious | None | None | None | None | I |
| G/R | 0.9294 | likely_pathogenic | 0.9135 | pathogenic | -0.156 | Destabilizing | 0.998 | D | 0.81 | deleterious | D | 0.524392827 | None | None | I |
| G/S | 0.611 | likely_pathogenic | 0.5826 | pathogenic | -0.405 | Destabilizing | 0.917 | D | 0.64 | neutral | N | 0.513174653 | None | None | I |
| G/T | 0.9327 | likely_pathogenic | 0.9246 | pathogenic | -0.489 | Destabilizing | 0.993 | D | 0.78 | deleterious | None | None | None | None | I |
| G/V | 0.951 | likely_pathogenic | 0.951 | pathogenic | -0.287 | Destabilizing | 0.996 | D | 0.798 | deleterious | D | 0.568350018 | None | None | I |
| G/W | 0.9743 | likely_pathogenic | 0.9702 | pathogenic | -1.037 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/Y | 0.9581 | likely_pathogenic | 0.951 | pathogenic | -0.703 | Destabilizing | 1.0 | D | 0.817 | 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.