Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29710 | 89353;89354;89355 | chr2:178553983;178553982;178553981 | chr2:179418710;179418709;179418708 |
| N2AB | 28069 | 84430;84431;84432 | chr2:178553983;178553982;178553981 | chr2:179418710;179418709;179418708 |
| N2A | 27142 | 81649;81650;81651 | chr2:178553983;178553982;178553981 | chr2:179418710;179418709;179418708 |
| N2B | 20645 | 62158;62159;62160 | chr2:178553983;178553982;178553981 | chr2:179418710;179418709;179418708 |
| Novex-1 | 20770 | 62533;62534;62535 | chr2:178553983;178553982;178553981 | chr2:179418710;179418709;179418708 |
| Novex-2 | 20837 | 62734;62735;62736 | chr2:178553983;178553982;178553981 | chr2:179418710;179418709;179418708 |
| 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/T | None | None | 1.0 | D | 0.797 | 0.786 | 0.752174296754 | gnomAD-4.0.0 | 6.84738E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15996E-05 | 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 | 0.7992 | likely_pathogenic | 0.8241 | pathogenic | -1.885 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/D | 0.9982 | likely_pathogenic | 0.9983 | pathogenic | -2.945 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.659400751 | None | None | N |
| A/E | 0.9977 | likely_pathogenic | 0.9975 | pathogenic | -2.718 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/F | 0.994 | likely_pathogenic | 0.9939 | pathogenic | -0.844 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| A/G | 0.508 | ambiguous | 0.5969 | pathogenic | -2.346 | Highly Destabilizing | 1.0 | D | 0.64 | neutral | D | 0.609496069 | None | None | N |
| A/H | 0.998 | likely_pathogenic | 0.9978 | pathogenic | -2.158 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| A/I | 0.9853 | likely_pathogenic | 0.9846 | pathogenic | -0.77 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/K | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -1.546 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| A/L | 0.9468 | likely_pathogenic | 0.948 | pathogenic | -0.77 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| A/M | 0.9786 | likely_pathogenic | 0.9781 | pathogenic | -1.331 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/N | 0.9955 | likely_pathogenic | 0.9958 | pathogenic | -1.994 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| A/P | 0.977 | likely_pathogenic | 0.9784 | pathogenic | -1.128 | Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.642775977 | None | None | N |
| A/Q | 0.9939 | likely_pathogenic | 0.9932 | pathogenic | -1.734 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| A/R | 0.9959 | likely_pathogenic | 0.9954 | pathogenic | -1.586 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/S | 0.4237 | ambiguous | 0.4269 | ambiguous | -2.338 | Highly Destabilizing | 1.0 | D | 0.628 | neutral | D | 0.583352544 | None | None | N |
| A/T | 0.8878 | likely_pathogenic | 0.8841 | pathogenic | -2.008 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.632853618 | None | None | N |
| A/V | 0.9095 | likely_pathogenic | 0.9095 | pathogenic | -1.128 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | D | 0.632248205 | None | None | N |
| A/W | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -1.412 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| A/Y | 0.9976 | likely_pathogenic | 0.9976 | pathogenic | -1.15 | Destabilizing | 1.0 | D | 0.883 | 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.