Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14297 | 43114;43115;43116 | chr2:178633470;178633469;178633468 | chr2:179498197;179498196;179498195 |
| N2AB | 12656 | 38191;38192;38193 | chr2:178633470;178633469;178633468 | chr2:179498197;179498196;179498195 |
| N2A | 11729 | 35410;35411;35412 | chr2:178633470;178633469;178633468 | chr2:179498197;179498196;179498195 |
| N2B | 5232 | 15919;15920;15921 | chr2:178633470;178633469;178633468 | chr2:179498197;179498196;179498195 |
| Novex-1 | 5357 | 16294;16295;16296 | chr2:178633470;178633469;178633468 | chr2:179498197;179498196;179498195 |
| Novex-2 | 5424 | 16495;16496;16497 | chr2:178633470;178633469;178633468 | chr2:179498197;179498196;179498195 |
| 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/D | None | None | 1.0 | D | 0.831 | 0.55 | 0.627921267029 | gnomAD-4.0.0 | 6.84407E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99619E-07 | 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 | 0.4596 | ambiguous | 0.4059 | ambiguous | -0.876 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | D | 0.607250303 | None | None | N |
| G/C | 0.9037 | likely_pathogenic | 0.8393 | pathogenic | -1.028 | Destabilizing | 1.0 | D | 0.778 | deleterious | D | 0.84619671 | None | None | N |
| G/D | 0.9064 | likely_pathogenic | 0.8334 | pathogenic | -1.667 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.748394253 | None | None | N |
| G/E | 0.9544 | likely_pathogenic | 0.8857 | pathogenic | -1.697 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/F | 0.9889 | likely_pathogenic | 0.9753 | pathogenic | -1.169 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| G/H | 0.9849 | likely_pathogenic | 0.9674 | pathogenic | -1.556 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| G/I | 0.9827 | likely_pathogenic | 0.95 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/K | 0.9821 | likely_pathogenic | 0.956 | pathogenic | -1.361 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/L | 0.9741 | likely_pathogenic | 0.9471 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/M | 0.9818 | likely_pathogenic | 0.9548 | pathogenic | -0.284 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| G/N | 0.9458 | likely_pathogenic | 0.8904 | pathogenic | -1.116 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/P | 0.9981 | likely_pathogenic | 0.9958 | pathogenic | -0.51 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| G/Q | 0.9671 | likely_pathogenic | 0.9316 | pathogenic | -1.285 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/R | 0.9678 | likely_pathogenic | 0.9192 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.846146413 | None | None | N |
| G/S | 0.5796 | likely_pathogenic | 0.4378 | ambiguous | -1.366 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.749113279 | None | None | N |
| G/T | 0.8899 | likely_pathogenic | 0.7957 | pathogenic | -1.318 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/V | 0.9513 | likely_pathogenic | 0.8837 | pathogenic | -0.51 | Destabilizing | 1.0 | D | 0.808 | deleterious | D | 0.84619671 | None | None | N |
| G/W | 0.9825 | likely_pathogenic | 0.9547 | pathogenic | -1.593 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| G/Y | 0.983 | likely_pathogenic | 0.96 | pathogenic | -1.164 | Destabilizing | 1.0 | D | 0.782 | 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.