Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15535 | 46828;46829;46830 | chr2:178619714;178619713;178619712 | chr2:179484441;179484440;179484439 |
| N2AB | 13894 | 41905;41906;41907 | chr2:178619714;178619713;178619712 | chr2:179484441;179484440;179484439 |
| N2A | 12967 | 39124;39125;39126 | chr2:178619714;178619713;178619712 | chr2:179484441;179484440;179484439 |
| N2B | 6470 | 19633;19634;19635 | chr2:178619714;178619713;178619712 | chr2:179484441;179484440;179484439 |
| Novex-1 | 6595 | 20008;20009;20010 | chr2:178619714;178619713;178619712 | chr2:179484441;179484440;179484439 |
| Novex-2 | 6662 | 20209;20210;20211 | chr2:178619714;178619713;178619712 | chr2:179484441;179484440;179484439 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/Q | rs761015674  |
-0.641 | 1.0 | N | 0.698 | 0.397 | 0.376039117802 | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 2.68E-05 | 0 |
| R/Q | rs761015674 |
-0.641 | 1.0 | N | 0.698 | 0.397 | 0.376039117802 | gnomAD-4.0.0 | 1.36449E-05 | None | None | None | None | N | None | 4.00588E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3572E-05 | 2.19732E-05 | 1.60246E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.8287 | likely_pathogenic | 0.8435 | pathogenic | -1.26 | Destabilizing | 0.999 | D | 0.648 | neutral | None | None | None | None | N |
| R/C | 0.3154 | likely_benign | 0.3769 | ambiguous | -1.236 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| R/D | 0.9596 | likely_pathogenic | 0.9694 | pathogenic | -0.42 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| R/E | 0.7276 | likely_pathogenic | 0.7499 | pathogenic | -0.258 | Destabilizing | 0.999 | D | 0.625 | neutral | None | None | None | None | N |
| R/F | 0.7972 | likely_pathogenic | 0.8515 | pathogenic | -0.864 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| R/G | 0.788 | likely_pathogenic | 0.8079 | pathogenic | -1.612 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | D | 0.544514924 | None | None | N |
| R/H | 0.1567 | likely_benign | 0.1854 | benign | -1.658 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| R/I | 0.5151 | ambiguous | 0.5589 | ambiguous | -0.281 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| R/K | 0.1747 | likely_benign | 0.2014 | benign | -1.197 | Destabilizing | 0.998 | D | 0.505 | neutral | None | None | None | None | N |
| R/L | 0.5123 | ambiguous | 0.5396 | ambiguous | -0.281 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | D | 0.54343054 | None | None | N |
| R/M | 0.5938 | likely_pathogenic | 0.6352 | pathogenic | -0.591 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| R/N | 0.8698 | likely_pathogenic | 0.9041 | pathogenic | -0.768 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| R/P | 0.9932 | likely_pathogenic | 0.9931 | pathogenic | -0.589 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.545873227 | None | None | N |
| R/Q | 0.1741 | likely_benign | 0.1873 | benign | -0.859 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | N | 0.508910322 | None | None | N |
| R/S | 0.798 | likely_pathogenic | 0.8153 | pathogenic | -1.632 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| R/T | 0.5567 | ambiguous | 0.5884 | pathogenic | -1.266 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| R/V | 0.6002 | likely_pathogenic | 0.6632 | pathogenic | -0.589 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| R/W | 0.4097 | ambiguous | 0.4584 | ambiguous | -0.406 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| R/Y | 0.5867 | likely_pathogenic | 0.6726 | pathogenic | -0.153 | Destabilizing | 1.0 | D | 0.786 | 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.