Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14777 | 44554;44555;44556 | chr2:178629396;178629395;178629394 | chr2:179494123;179494122;179494121 |
| N2AB | 13136 | 39631;39632;39633 | chr2:178629396;178629395;178629394 | chr2:179494123;179494122;179494121 |
| N2A | 12209 | 36850;36851;36852 | chr2:178629396;178629395;178629394 | chr2:179494123;179494122;179494121 |
| N2B | 5712 | 17359;17360;17361 | chr2:178629396;178629395;178629394 | chr2:179494123;179494122;179494121 |
| Novex-1 | 5837 | 17734;17735;17736 | chr2:178629396;178629395;178629394 | chr2:179494123;179494122;179494121 |
| Novex-2 | 5904 | 17935;17936;17937 | chr2:178629396;178629395;178629394 | chr2:179494123;179494122;179494121 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | None | None | 1.0 | N | 0.575 | 0.229 | 0.186928172975 | gnomAD-4.0.0 | 1.59316E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02792E-05 |
| A/T | rs746862383  |
-0.712 | 1.0 | N | 0.733 | 0.301 | 0.199424873507 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8176 | likely_pathogenic | 0.7935 | pathogenic | -0.825 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| A/D | 0.8584 | likely_pathogenic | 0.8216 | pathogenic | -0.358 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| A/E | 0.5717 | likely_pathogenic | 0.4925 | ambiguous | -0.5 | Destabilizing | 1.0 | D | 0.747 | deleterious | N | 0.385367487 | None | None | N |
| A/F | 0.8061 | likely_pathogenic | 0.7584 | pathogenic | -0.86 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| A/G | 0.437 | ambiguous | 0.3994 | ambiguous | -0.41 | Destabilizing | 1.0 | D | 0.559 | neutral | D | 0.555974465 | None | None | N |
| A/H | 0.8919 | likely_pathogenic | 0.8704 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| A/I | 0.5601 | ambiguous | 0.468 | ambiguous | -0.34 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| A/K | 0.8521 | likely_pathogenic | 0.8034 | pathogenic | -0.692 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| A/L | 0.5483 | ambiguous | 0.4687 | ambiguous | -0.34 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| A/M | 0.5701 | likely_pathogenic | 0.4989 | ambiguous | -0.42 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| A/N | 0.7772 | likely_pathogenic | 0.7414 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/P | 0.8145 | likely_pathogenic | 0.8267 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.752 | deleterious | N | 0.452474327 | None | None | N |
| A/Q | 0.6826 | likely_pathogenic | 0.6388 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| A/R | 0.7944 | likely_pathogenic | 0.7444 | pathogenic | -0.249 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| A/S | 0.1846 | likely_benign | 0.1832 | benign | -0.622 | Destabilizing | 1.0 | D | 0.575 | neutral | N | 0.448154457 | None | None | N |
| A/T | 0.2614 | likely_benign | 0.2208 | benign | -0.678 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.450707768 | None | None | N |
| A/V | 0.2807 | likely_benign | 0.2189 | benign | -0.304 | Destabilizing | 1.0 | D | 0.645 | neutral | N | 0.448719644 | None | None | N |
| A/W | 0.9733 | likely_pathogenic | 0.9603 | pathogenic | -1.006 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| A/Y | 0.8943 | likely_pathogenic | 0.8673 | pathogenic | -0.66 | Destabilizing | 1.0 | D | 0.828 | 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.