Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6278 | 19057;19058;19059 | chr2:178729324;178729323;178729322 | chr2:179594051;179594050;179594049 |
| N2AB | 5961 | 18106;18107;18108 | chr2:178729324;178729323;178729322 | chr2:179594051;179594050;179594049 |
| N2A | 5034 | 15325;15326;15327 | chr2:178729324;178729323;178729322 | chr2:179594051;179594050;179594049 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs397517488  |
-0.083 | 1.0 | D | 0.786 | 0.651 | 0.511105228888 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.53846E-04 | None | 0 | None | 0 | 7.86E-06 | 1.41243E-04 |
| G/S | rs397517488 |
-0.083 | 1.0 | D | 0.786 | 0.651 | 0.511105228888 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs397517488 |
-0.083 | 1.0 | D | 0.786 | 0.651 | 0.511105228888 | gnomAD-4.0.0 | 1.61299E-05 | None | None | None | None | I | None | 2.67201E-05 | 0 | None | 0 | 1.56138E-04 | None | 0 | 1.64799E-04 | 1.1031E-05 | 1.09946E-05 | 3.20708E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.595 | likely_pathogenic | 0.6329 | pathogenic | -0.209 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | D | 0.582495325 | None | None | I |
| G/C | 0.8855 | likely_pathogenic | 0.8892 | pathogenic | -0.81 | Destabilizing | 1.0 | D | 0.796 | deleterious | D | 0.589742432 | None | None | I |
| G/D | 0.8148 | likely_pathogenic | 0.8126 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.588127997 | None | None | I |
| G/E | 0.8632 | likely_pathogenic | 0.8558 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| G/F | 0.9443 | likely_pathogenic | 0.9507 | pathogenic | -1.045 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/H | 0.9409 | likely_pathogenic | 0.949 | pathogenic | -0.438 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/I | 0.9059 | likely_pathogenic | 0.9226 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/K | 0.9311 | likely_pathogenic | 0.9357 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/L | 0.9306 | likely_pathogenic | 0.9472 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/M | 0.9468 | likely_pathogenic | 0.9553 | pathogenic | -0.416 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/N | 0.8543 | likely_pathogenic | 0.8747 | pathogenic | -0.237 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/P | 0.993 | likely_pathogenic | 0.9949 | pathogenic | -0.335 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| G/Q | 0.8929 | likely_pathogenic | 0.8961 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/R | 0.8502 | likely_pathogenic | 0.8482 | pathogenic | -0.154 | Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.626111919 | None | None | I |
| G/S | 0.452 | ambiguous | 0.4624 | ambiguous | -0.376 | Destabilizing | 1.0 | D | 0.786 | deleterious | D | 0.581889912 | None | None | I |
| G/T | 0.7999 | likely_pathogenic | 0.816 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/V | 0.8683 | likely_pathogenic | 0.8835 | pathogenic | -0.335 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.642736693 | None | None | I |
| G/W | 0.9314 | likely_pathogenic | 0.932 | pathogenic | -1.168 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/Y | 0.9232 | likely_pathogenic | 0.9303 | pathogenic | -0.816 | Destabilizing | 1.0 | D | 0.824 | 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.