Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29668 | 89227;89228;89229 | chr2:178554109;178554108;178554107 | chr2:179418836;179418835;179418834 |
| N2AB | 28027 | 84304;84305;84306 | chr2:178554109;178554108;178554107 | chr2:179418836;179418835;179418834 |
| N2A | 27100 | 81523;81524;81525 | chr2:178554109;178554108;178554107 | chr2:179418836;179418835;179418834 |
| N2B | 20603 | 62032;62033;62034 | chr2:178554109;178554108;178554107 | chr2:179418836;179418835;179418834 |
| Novex-1 | 20728 | 62407;62408;62409 | chr2:178554109;178554108;178554107 | chr2:179418836;179418835;179418834 |
| Novex-2 | 20795 | 62608;62609;62610 | chr2:178554109;178554108;178554107 | chr2:179418836;179418835;179418834 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/F | rs760499831  |
-0.814 | 0.999 | D | 0.651 | 0.822 | 0.816652563581 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/F | rs760499831 |
-0.814 | 0.999 | D | 0.651 | 0.822 | 0.816652563581 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/F | rs760499831 |
-0.814 | 0.999 | D | 0.651 | 0.822 | 0.816652563581 | gnomAD-4.0.0 | 2.62874E-05 | None | None | None | None | N | None | 9.65204E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9967 | likely_pathogenic | 0.998 | pathogenic | -3.728 | Highly Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| Y/C | 0.9135 | likely_pathogenic | 0.9414 | pathogenic | -2.091 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.66837122 | None | None | N |
| Y/D | 0.9954 | likely_pathogenic | 0.9971 | pathogenic | -3.968 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.668573024 | None | None | N |
| Y/E | 0.999 | likely_pathogenic | 0.9993 | pathogenic | -3.759 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| Y/F | 0.3475 | ambiguous | 0.3148 | benign | -1.606 | Destabilizing | 0.999 | D | 0.651 | neutral | D | 0.590415694 | None | None | N |
| Y/G | 0.9899 | likely_pathogenic | 0.9935 | pathogenic | -4.116 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| Y/H | 0.9833 | likely_pathogenic | 0.9874 | pathogenic | -2.776 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.667967611 | None | None | N |
| Y/I | 0.9714 | likely_pathogenic | 0.9774 | pathogenic | -2.396 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| Y/K | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -2.693 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| Y/L | 0.9476 | likely_pathogenic | 0.9563 | pathogenic | -2.396 | Highly Destabilizing | 0.999 | D | 0.724 | prob.delet. | None | None | None | None | N |
| Y/M | 0.9882 | likely_pathogenic | 0.9902 | pathogenic | -2.067 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| Y/N | 0.9755 | likely_pathogenic | 0.9825 | pathogenic | -3.468 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.66837122 | None | None | N |
| Y/P | 0.9989 | likely_pathogenic | 0.9994 | pathogenic | -2.862 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| Y/Q | 0.9986 | likely_pathogenic | 0.9991 | pathogenic | -3.216 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| Y/R | 0.996 | likely_pathogenic | 0.997 | pathogenic | -2.416 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| Y/S | 0.986 | likely_pathogenic | 0.9909 | pathogenic | -3.766 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.66837122 | None | None | N |
| Y/T | 0.995 | likely_pathogenic | 0.9969 | pathogenic | -3.445 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| Y/V | 0.9571 | likely_pathogenic | 0.9681 | pathogenic | -2.862 | Highly Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| Y/W | 0.9037 | likely_pathogenic | 0.9168 | pathogenic | -0.825 | Destabilizing | 1.0 | D | 0.799 | 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.