Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34392 | 103399;103400;103401 | chr2:178533441;178533440;178533439 | chr2:179398168;179398167;179398166 |
| N2AB | 32751 | 98476;98477;98478 | chr2:178533441;178533440;178533439 | chr2:179398168;179398167;179398166 |
| N2A | 31824 | 95695;95696;95697 | chr2:178533441;178533440;178533439 | chr2:179398168;179398167;179398166 |
| N2B | 25327 | 76204;76205;76206 | chr2:178533441;178533440;178533439 | chr2:179398168;179398167;179398166 |
| Novex-1 | 25452 | 76579;76580;76581 | chr2:178533441;178533440;178533439 | chr2:179398168;179398167;179398166 |
| Novex-2 | 25519 | 76780;76781;76782 | chr2:178533441;178533440;178533439 | chr2:179398168;179398167;179398166 |
| 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/A | None | None | 1.0 | D | 0.776 | 0.724 | 0.570999777189 | gnomAD-4.0.0 | 6.84193E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15939E-05 | 0 |
| P/S | rs767698514  |
-2.545 | 1.0 | D | 0.818 | 0.76 | 0.606774948416 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| P/S | rs767698514 |
-2.545 | 1.0 | D | 0.818 | 0.76 | 0.606774948416 | gnomAD-4.0.0 | 2.05258E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.47818E-05 | 0 |
| P/T | rs767698514 |
None | 1.0 | D | 0.828 | 0.751 | 0.640634255683 | gnomAD-4.0.0 | 6.84193E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99429E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8292 | likely_pathogenic | 0.6531 | pathogenic | -1.783 | Destabilizing | 1.0 | D | 0.776 | deleterious | D | 0.522712485 | None | None | N |
| P/C | 0.9853 | likely_pathogenic | 0.9701 | pathogenic | -1.501 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| P/D | 0.9991 | likely_pathogenic | 0.9985 | pathogenic | -2.167 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| P/E | 0.9966 | likely_pathogenic | 0.9948 | pathogenic | -2.119 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/F | 0.9987 | likely_pathogenic | 0.9974 | pathogenic | -1.45 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| P/G | 0.9925 | likely_pathogenic | 0.9829 | pathogenic | -2.154 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| P/H | 0.9958 | likely_pathogenic | 0.9931 | pathogenic | -1.804 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| P/I | 0.9786 | likely_pathogenic | 0.9605 | pathogenic | -0.83 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| P/K | 0.9978 | likely_pathogenic | 0.997 | pathogenic | -1.423 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/L | 0.9602 | likely_pathogenic | 0.9281 | pathogenic | -0.83 | Destabilizing | 1.0 | D | 0.81 | deleterious | D | 0.535786629 | None | None | N |
| P/M | 0.9918 | likely_pathogenic | 0.9844 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| P/N | 0.9985 | likely_pathogenic | 0.9974 | pathogenic | -1.393 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/Q | 0.9928 | likely_pathogenic | 0.988 | pathogenic | -1.531 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.574582941 | None | None | N |
| P/R | 0.9934 | likely_pathogenic | 0.991 | pathogenic | -0.989 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.574582941 | None | None | N |
| P/S | 0.9812 | likely_pathogenic | 0.9579 | pathogenic | -1.928 | Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.551198767 | None | None | N |
| P/T | 0.9684 | likely_pathogenic | 0.9423 | pathogenic | -1.763 | Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.555971707 | None | None | N |
| P/V | 0.9378 | likely_pathogenic | 0.8865 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -1.734 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| P/Y | 0.9991 | likely_pathogenic | 0.9983 | pathogenic | -1.401 | Destabilizing | 1.0 | D | 0.787 | 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.