Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28772 | 86539;86540;86541 | chr2:178559818;178559817;178559816 | chr2:179424545;179424544;179424543 |
| N2AB | 27131 | 81616;81617;81618 | chr2:178559818;178559817;178559816 | chr2:179424545;179424544;179424543 |
| N2A | 26204 | 78835;78836;78837 | chr2:178559818;178559817;178559816 | chr2:179424545;179424544;179424543 |
| N2B | 19707 | 59344;59345;59346 | chr2:178559818;178559817;178559816 | chr2:179424545;179424544;179424543 |
| Novex-1 | 19832 | 59719;59720;59721 | chr2:178559818;178559817;178559816 | chr2:179424545;179424544;179424543 |
| Novex-2 | 19899 | 59920;59921;59922 | chr2:178559818;178559817;178559816 | chr2:179424545;179424544;179424543 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs574993385  |
-1.262 | 0.999 | N | 0.582 | 0.432 | 0.248417906384 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/L | rs574993385 |
-1.262 | 0.999 | N | 0.582 | 0.432 | 0.248417906384 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9738 | likely_pathogenic | 0.9656 | pathogenic | -2.929 | Highly Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| F/C | 0.7776 | likely_pathogenic | 0.7411 | pathogenic | -2.183 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | N | 0.504058349 | None | None | N |
| F/D | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -2.844 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| F/E | 0.999 | likely_pathogenic | 0.9987 | pathogenic | -2.667 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| F/G | 0.9955 | likely_pathogenic | 0.9943 | pathogenic | -3.369 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| F/H | 0.9904 | likely_pathogenic | 0.9872 | pathogenic | -1.744 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| F/I | 0.4444 | ambiguous | 0.3998 | ambiguous | -1.514 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.368125342 | None | None | N |
| F/K | 0.9987 | likely_pathogenic | 0.9983 | pathogenic | -2.323 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| F/L | 0.9387 | likely_pathogenic | 0.9317 | pathogenic | -1.514 | Destabilizing | 0.999 | D | 0.582 | neutral | N | 0.390711414 | None | None | N |
| F/M | 0.7902 | likely_pathogenic | 0.7544 | pathogenic | -1.243 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| F/N | 0.9971 | likely_pathogenic | 0.9959 | pathogenic | -2.685 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| F/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.993 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| F/Q | 0.997 | likely_pathogenic | 0.9963 | pathogenic | -2.671 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| F/R | 0.9961 | likely_pathogenic | 0.9953 | pathogenic | -1.697 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| F/S | 0.9869 | likely_pathogenic | 0.9823 | pathogenic | -3.436 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.450817042 | None | None | N |
| F/T | 0.9831 | likely_pathogenic | 0.9763 | pathogenic | -3.142 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| F/V | 0.4818 | ambiguous | 0.4408 | ambiguous | -1.993 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.407312875 | None | None | N |
| F/W | 0.9397 | likely_pathogenic | 0.9341 | pathogenic | -0.636 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| F/Y | 0.6752 | likely_pathogenic | 0.6463 | pathogenic | -1.006 | Destabilizing | 0.999 | D | 0.603 | neutral | N | 0.462337932 | 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.