Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19218 | 57877;57878;57879 | chr2:178595702;178595701;178595700 | chr2:179460429;179460428;179460427 |
| N2AB | 17577 | 52954;52955;52956 | chr2:178595702;178595701;178595700 | chr2:179460429;179460428;179460427 |
| N2A | 16650 | 50173;50174;50175 | chr2:178595702;178595701;178595700 | chr2:179460429;179460428;179460427 |
| N2B | 10153 | 30682;30683;30684 | chr2:178595702;178595701;178595700 | chr2:179460429;179460428;179460427 |
| Novex-1 | 10278 | 31057;31058;31059 | chr2:178595702;178595701;178595700 | chr2:179460429;179460428;179460427 |
| Novex-2 | 10345 | 31258;31259;31260 | chr2:178595702;178595701;178595700 | chr2:179460429;179460428;179460427 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/I | rs1270810724  |
None | 1.0 | N | 0.92 | 0.512 | 0.684728611496 | gnomAD-4.0.0 | 1.60353E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.80332E-05 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs1270810724 |
-1.211 | 0.999 | N | 0.518 | 0.318 | 0.193865811164 | gnomAD-2.1.1 | 4.16E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.45E-05 | None | 0 | 0 | 0 |
| N/S | rs1270810724 |
-1.211 | 0.999 | N | 0.518 | 0.318 | 0.193865811164 | gnomAD-4.0.0 | 1.60353E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.46054E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.7352 | likely_pathogenic | 0.6949 | pathogenic | -0.955 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| N/C | 0.5478 | ambiguous | 0.5458 | ambiguous | -0.564 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| N/D | 0.7546 | likely_pathogenic | 0.7209 | pathogenic | -1.953 | Destabilizing | 0.999 | D | 0.547 | neutral | N | 0.519500309 | None | None | N |
| N/E | 0.9555 | likely_pathogenic | 0.945 | pathogenic | -1.787 | Destabilizing | 0.999 | D | 0.603 | neutral | None | None | None | None | N |
| N/F | 0.9515 | likely_pathogenic | 0.9495 | pathogenic | -0.759 | Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | None | None | N |
| N/G | 0.5644 | likely_pathogenic | 0.5163 | ambiguous | -1.294 | Destabilizing | 0.999 | D | 0.519 | neutral | None | None | None | None | N |
| N/H | 0.2807 | likely_benign | 0.2669 | benign | -0.953 | Destabilizing | 1.0 | D | 0.665 | neutral | N | 0.492295065 | None | None | N |
| N/I | 0.9626 | likely_pathogenic | 0.9596 | pathogenic | -0.08 | Destabilizing | 1.0 | D | 0.92 | deleterious | N | 0.473699416 | None | None | N |
| N/K | 0.9268 | likely_pathogenic | 0.913 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.643 | neutral | N | 0.504106782 | None | None | N |
| N/L | 0.9043 | likely_pathogenic | 0.9002 | pathogenic | -0.08 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| N/M | 0.9317 | likely_pathogenic | 0.9307 | pathogenic | 0.22 | Stabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| N/P | 0.9969 | likely_pathogenic | 0.996 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| N/Q | 0.8417 | likely_pathogenic | 0.816 | pathogenic | -1.182 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| N/R | 0.846 | likely_pathogenic | 0.8225 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.662 | neutral | None | None | None | None | N |
| N/S | 0.1645 | likely_benign | 0.1641 | benign | -1.183 | Destabilizing | 0.999 | D | 0.518 | neutral | N | 0.486598457 | None | None | N |
| N/T | 0.7209 | likely_pathogenic | 0.6936 | pathogenic | -0.847 | Destabilizing | 0.999 | D | 0.584 | neutral | N | 0.508013879 | None | None | N |
| N/V | 0.9259 | likely_pathogenic | 0.92 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| N/W | 0.9823 | likely_pathogenic | 0.9789 | pathogenic | -0.643 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| N/Y | 0.6811 | likely_pathogenic | 0.6668 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.904 | deleterious | N | 0.500010471 | 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.