Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26221 | 78886;78887;78888 | chr2:178567471;178567470;178567469 | chr2:179432198;179432197;179432196 |
| N2AB | 24580 | 73963;73964;73965 | chr2:178567471;178567470;178567469 | chr2:179432198;179432197;179432196 |
| N2A | 23653 | 71182;71183;71184 | chr2:178567471;178567470;178567469 | chr2:179432198;179432197;179432196 |
| N2B | 17156 | 51691;51692;51693 | chr2:178567471;178567470;178567469 | chr2:179432198;179432197;179432196 |
| Novex-1 | 17281 | 52066;52067;52068 | chr2:178567471;178567470;178567469 | chr2:179432198;179432197;179432196 |
| Novex-2 | 17348 | 52267;52268;52269 | chr2:178567471;178567470;178567469 | chr2:179432198;179432197;179432196 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs912454417  |
None | 1.0 | D | 0.804 | 0.776 | 0.785369063986 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs912454417 |
None | 1.0 | D | 0.804 | 0.776 | 0.785369063986 | gnomAD-4.0.0 | 3.71991E-06 | None | None | None | None | I | None | 6.67985E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.6019E-05 |
| P/R | None | None | 1.0 | D | 0.817 | 0.777 | 0.701389159433 | gnomAD-4.0.0 | 2.05348E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69903E-06 | 0 | 0 |
| P/T | rs1421106206 |
None | 1.0 | D | 0.804 | 0.81 | 0.65411270277 | gnomAD-4.0.0 | 4.10706E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.3982E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.982 | likely_pathogenic | 0.9799 | pathogenic | -0.645 | Destabilizing | 1.0 | D | 0.762 | deleterious | D | 0.567874671 | None | None | I |
| P/C | 0.9978 | likely_pathogenic | 0.9973 | pathogenic | -0.586 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| P/D | 0.9937 | likely_pathogenic | 0.994 | pathogenic | -0.507 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| P/E | 0.9944 | likely_pathogenic | 0.9945 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| P/F | 0.9983 | likely_pathogenic | 0.998 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| P/G | 0.9909 | likely_pathogenic | 0.9905 | pathogenic | -0.801 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| P/H | 0.9925 | likely_pathogenic | 0.9909 | pathogenic | -0.368 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.655425386 | None | None | I |
| P/I | 0.9869 | likely_pathogenic | 0.9851 | pathogenic | -0.376 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| P/K | 0.995 | likely_pathogenic | 0.995 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| P/L | 0.97 | likely_pathogenic | 0.9661 | pathogenic | -0.376 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.629887274 | None | None | I |
| P/M | 0.9935 | likely_pathogenic | 0.9922 | pathogenic | -0.383 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| P/N | 0.9931 | likely_pathogenic | 0.9931 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| P/Q | 0.994 | likely_pathogenic | 0.9931 | pathogenic | -0.562 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| P/R | 0.9889 | likely_pathogenic | 0.9885 | pathogenic | -0.07 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.655021777 | None | None | I |
| P/S | 0.9947 | likely_pathogenic | 0.9939 | pathogenic | -0.662 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.585471947 | None | None | I |
| P/T | 0.9833 | likely_pathogenic | 0.9821 | pathogenic | -0.669 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.655021777 | None | None | I |
| P/V | 0.9778 | likely_pathogenic | 0.9753 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| P/W | 0.999 | likely_pathogenic | 0.9985 | pathogenic | -0.887 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| P/Y | 0.9961 | likely_pathogenic | 0.9955 | pathogenic | -0.604 | Destabilizing | 1.0 | D | 0.821 | 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.