Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20 | 283;284;285 | chr2:178804585;178804584;178804583 | chr2:179669312;179669311;179669310 |
| N2AB | 20 | 283;284;285 | chr2:178804585;178804584;178804583 | chr2:179669312;179669311;179669310 |
| N2A | 20 | 283;284;285 | chr2:178804585;178804584;178804583 | chr2:179669312;179669311;179669310 |
| N2B | 20 | 283;284;285 | chr2:178804585;178804584;178804583 | chr2:179669312;179669311;179669310 |
| Novex-1 | 20 | 283;284;285 | chr2:178804585;178804584;178804583 | chr2:179669312;179669311;179669310 |
| Novex-2 | 20 | 283;284;285 | chr2:178804585;178804584;178804583 | chr2:179669312;179669311;179669310 |
| Novex-3 | 20 | 283;284;285 | chr2:178804585;178804584;178804583 | chr2:179669312;179669311;179669310 |
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/D | None | None | 1.0 | D | 0.825 | 0.773 | 0.631643887469 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | 0.072(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 6.17284E-04 | 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 | 0.4219 | ambiguous | 0.4536 | ambiguous | -0.24 | Destabilizing | 0.997 | D | 0.679 | prob.neutral | D | 0.781622509 | None | -0.208(TCAP) | N |
| G/C | 0.8619 | likely_pathogenic | 0.8647 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.847253965 | None | 0.222(TCAP) | N |
| G/D | 0.3204 | likely_benign | 0.3637 | ambiguous | -0.315 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.68928433 | None | 0.072(TCAP) | N |
| G/E | 0.4344 | ambiguous | 0.4759 | ambiguous | -0.479 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | -0.014(TCAP) | N |
| G/F | 0.944 | likely_pathogenic | 0.952 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | 0.642(TCAP) | N |
| G/H | 0.7747 | likely_pathogenic | 0.7973 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | 0.69(TCAP) | N |
| G/I | 0.9009 | likely_pathogenic | 0.9192 | pathogenic | -0.42 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | -0.164(TCAP) | N |
| G/K | 0.6884 | likely_pathogenic | 0.7129 | pathogenic | -0.579 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | -0.158(TCAP) | N |
| G/L | 0.8927 | likely_pathogenic | 0.9044 | pathogenic | -0.42 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | -0.164(TCAP) | N |
| G/M | 0.9074 | likely_pathogenic | 0.9193 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | 0.099(TCAP) | N |
| G/N | 0.3647 | ambiguous | 0.4004 | ambiguous | -0.305 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | -0.118(TCAP) | N |
| G/P | 0.9907 | likely_pathogenic | 0.9925 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | -0.173(TCAP) | N |
| G/Q | 0.6259 | likely_pathogenic | 0.6619 | pathogenic | -0.59 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | -0.026(TCAP) | N |
| G/R | 0.6373 | likely_pathogenic | 0.6628 | pathogenic | -0.207 | Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.770646497 | None | -0.503(TCAP) | N |
| G/S | 0.2214 | likely_benign | 0.2486 | benign | -0.476 | Destabilizing | 0.999 | D | 0.767 | deleterious | D | 0.716666568 | None | 0.067(TCAP) | N |
| G/T | 0.5613 | ambiguous | 0.6078 | pathogenic | -0.57 | Destabilizing | 0.997 | D | 0.611 | neutral | None | None | None | 0.028(TCAP) | N |
| G/V | 0.8009 | likely_pathogenic | 0.8287 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.847526406 | None | -0.173(TCAP) | N |
| G/W | 0.8908 | likely_pathogenic | 0.9032 | pathogenic | -1.127 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | 0.726(TCAP) | N |
| G/Y | 0.8698 | likely_pathogenic | 0.881 | pathogenic | -0.769 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | 0.697(TCAP) | 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.