Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20024 | 60295;60296;60297 | chr2:178591749;178591748;178591747 | chr2:179456476;179456475;179456474 |
| N2AB | 18383 | 55372;55373;55374 | chr2:178591749;178591748;178591747 | chr2:179456476;179456475;179456474 |
| N2A | 17456 | 52591;52592;52593 | chr2:178591749;178591748;178591747 | chr2:179456476;179456475;179456474 |
| N2B | 10959 | 33100;33101;33102 | chr2:178591749;178591748;178591747 | chr2:179456476;179456475;179456474 |
| Novex-1 | 11084 | 33475;33476;33477 | chr2:178591749;178591748;178591747 | chr2:179456476;179456475;179456474 |
| Novex-2 | 11151 | 33676;33677;33678 | chr2:178591749;178591748;178591747 | chr2:179456476;179456475;179456474 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | None | None | 1.0 | D | 0.657 | 0.522 | 0.503124787307 | gnomAD-4.0.0 | 4.10614E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39759E-06 | 0 | 0 |
| W/L | None | None | 1.0 | N | 0.643 | 0.499 | 0.713321816834 | gnomAD-4.0.0 | 7.20193E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.87501E-06 | 0 | 0 |
| W/R | None | None | 1.0 | N | 0.717 | 0.582 | 0.774179987323 | gnomAD-4.0.0 | 7.20193E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.87501E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9946 | likely_pathogenic | 0.9935 | pathogenic | -3.063 | Highly Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| W/C | 0.9966 | likely_pathogenic | 0.996 | pathogenic | -1.32 | Destabilizing | 1.0 | D | 0.657 | neutral | D | 0.542607262 | None | None | N |
| W/D | 0.9969 | likely_pathogenic | 0.9961 | pathogenic | -1.884 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| W/E | 0.9981 | likely_pathogenic | 0.9979 | pathogenic | -1.814 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| W/F | 0.6049 | likely_pathogenic | 0.6152 | pathogenic | -1.931 | Destabilizing | 1.0 | D | 0.63 | neutral | None | None | None | None | N |
| W/G | 0.9761 | likely_pathogenic | 0.9737 | pathogenic | -3.256 | Highly Destabilizing | 1.0 | D | 0.643 | neutral | D | 0.530490488 | None | None | N |
| W/H | 0.9905 | likely_pathogenic | 0.9899 | pathogenic | -1.596 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| W/I | 0.99 | likely_pathogenic | 0.9885 | pathogenic | -2.357 | Highly Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| W/K | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -1.596 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| W/L | 0.9771 | likely_pathogenic | 0.9777 | pathogenic | -2.357 | Highly Destabilizing | 1.0 | D | 0.643 | neutral | N | 0.521714623 | None | None | N |
| W/M | 0.9907 | likely_pathogenic | 0.9896 | pathogenic | -1.758 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| W/N | 0.996 | likely_pathogenic | 0.9954 | pathogenic | -1.923 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| W/P | 0.9959 | likely_pathogenic | 0.9957 | pathogenic | -2.61 | Highly Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| W/Q | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -1.959 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| W/R | 0.9977 | likely_pathogenic | 0.9975 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.499459765 | None | None | N |
| W/S | 0.9886 | likely_pathogenic | 0.9864 | pathogenic | -2.36 | Highly Destabilizing | 1.0 | D | 0.718 | prob.delet. | N | 0.511625765 | None | None | N |
| W/T | 0.9927 | likely_pathogenic | 0.9903 | pathogenic | -2.243 | Highly Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| W/V | 0.9899 | likely_pathogenic | 0.9884 | pathogenic | -2.61 | Highly Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| W/Y | 0.8444 | likely_pathogenic | 0.8604 | pathogenic | -1.711 | Destabilizing | 1.0 | D | 0.567 | neutral | 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.