Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35628 | 107107;107108;107109 | chr2:178528869;178528868;178528867 | chr2:179393596;179393595;179393594 |
| N2AB | 33987 | 102184;102185;102186 | chr2:178528869;178528868;178528867 | chr2:179393596;179393595;179393594 |
| N2A | 33060 | 99403;99404;99405 | chr2:178528869;178528868;178528867 | chr2:179393596;179393595;179393594 |
| N2B | 26563 | 79912;79913;79914 | chr2:178528869;178528868;178528867 | chr2:179393596;179393595;179393594 |
| Novex-1 | 26688 | 80287;80288;80289 | chr2:178528869;178528868;178528867 | chr2:179393596;179393595;179393594 |
| Novex-2 | 26755 | 80488;80489;80490 | chr2:178528869;178528868;178528867 | chr2:179393596;179393595;179393594 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs748131753  |
-1.565 | 1.0 | N | 0.728 | 0.383 | 0.331619326243 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.66E-05 | 0 |
| A/G | rs748131753 |
-1.565 | 1.0 | N | 0.728 | 0.383 | 0.331619326243 | gnomAD-4.0.0 | 6.84145E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99399E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8193 | likely_pathogenic | 0.8379 | pathogenic | -1.131 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/D | 0.9268 | likely_pathogenic | 0.9633 | pathogenic | -1.954 | Destabilizing | 1.0 | D | 0.909 | deleterious | N | 0.463598593 | None | None | N |
| A/E | 0.8684 | likely_pathogenic | 0.9214 | pathogenic | -1.916 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| A/F | 0.8279 | likely_pathogenic | 0.88 | pathogenic | -1.125 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| A/G | 0.2611 | likely_benign | 0.2913 | benign | -1.482 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | N | 0.463425235 | None | None | N |
| A/H | 0.9581 | likely_pathogenic | 0.9762 | pathogenic | -1.729 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| A/I | 0.6996 | likely_pathogenic | 0.721 | pathogenic | -0.328 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| A/K | 0.9531 | likely_pathogenic | 0.9741 | pathogenic | -1.352 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/L | 0.5762 | likely_pathogenic | 0.6207 | pathogenic | -0.328 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| A/M | 0.6526 | likely_pathogenic | 0.6924 | pathogenic | -0.229 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| A/N | 0.8577 | likely_pathogenic | 0.9109 | pathogenic | -1.25 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| A/P | 0.9418 | likely_pathogenic | 0.967 | pathogenic | -0.558 | Destabilizing | 1.0 | D | 0.886 | deleterious | N | 0.463598593 | None | None | N |
| A/Q | 0.8919 | likely_pathogenic | 0.9255 | pathogenic | -1.335 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| A/R | 0.926 | likely_pathogenic | 0.9555 | pathogenic | -1.081 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| A/S | 0.2451 | likely_benign | 0.2887 | benign | -1.623 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | N | 0.463251876 | None | None | N |
| A/T | 0.2679 | likely_benign | 0.308 | benign | -1.486 | Destabilizing | 1.0 | D | 0.861 | deleterious | N | 0.463078518 | None | None | N |
| A/V | 0.3432 | ambiguous | 0.3679 | ambiguous | -0.558 | Destabilizing | 1.0 | D | 0.777 | deleterious | N | 0.459958068 | None | None | N |
| A/W | 0.977 | likely_pathogenic | 0.9866 | pathogenic | -1.622 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| A/Y | 0.9075 | likely_pathogenic | 0.9433 | pathogenic | -1.181 | Destabilizing | 1.0 | D | 0.927 | 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.