Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7397 | 22414;22415;22416 | chr2:178722710;178722709;178722708 | chr2:179587437;179587436;179587435 |
| N2AB | 7080 | 21463;21464;21465 | chr2:178722710;178722709;178722708 | chr2:179587437;179587436;179587435 |
| N2A | 6153 | 18682;18683;18684 | chr2:178722710;178722709;178722708 | chr2:179587437;179587436;179587435 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs1444697526  |
-1.808 | 1.0 | D | 0.644 | 0.555 | 0.525922550829 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs1444697526 |
-1.808 | 1.0 | D | 0.644 | 0.555 | 0.525922550829 | gnomAD-4.0.0 | 1.59296E-06 | None | None | None | None | N | None | 0 | 2.28969E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9241 | likely_pathogenic | 0.9446 | pathogenic | -1.875 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| A/D | 0.9954 | likely_pathogenic | 0.9986 | pathogenic | -2.675 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| A/E | 0.9881 | likely_pathogenic | 0.9956 | pathogenic | -2.536 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.644835098 | None | None | N |
| A/F | 0.9598 | likely_pathogenic | 0.9834 | pathogenic | -1.064 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| A/G | 0.3701 | ambiguous | 0.4812 | ambiguous | -1.893 | Destabilizing | 0.979 | D | 0.622 | neutral | D | 0.596343047 | None | None | N |
| A/H | 0.9973 | likely_pathogenic | 0.9991 | pathogenic | -1.86 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| A/I | 0.8152 | likely_pathogenic | 0.8748 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| A/K | 0.9981 | likely_pathogenic | 0.9994 | pathogenic | -1.513 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| A/L | 0.7274 | likely_pathogenic | 0.7848 | pathogenic | -0.433 | Destabilizing | 0.999 | D | 0.708 | prob.delet. | None | None | None | None | N |
| A/M | 0.8429 | likely_pathogenic | 0.9077 | pathogenic | -0.799 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/N | 0.9928 | likely_pathogenic | 0.9974 | pathogenic | -1.756 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| A/P | 0.9926 | likely_pathogenic | 0.997 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.628583573 | None | None | N |
| A/Q | 0.9887 | likely_pathogenic | 0.9951 | pathogenic | -1.72 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| A/R | 0.9918 | likely_pathogenic | 0.9967 | pathogenic | -1.357 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/S | 0.5291 | ambiguous | 0.6398 | pathogenic | -2.19 | Highly Destabilizing | 0.99 | D | 0.334 | neutral | D | 0.607052981 | None | None | N |
| A/T | 0.6297 | likely_pathogenic | 0.7582 | pathogenic | -1.938 | Destabilizing | 1.0 | D | 0.644 | neutral | D | 0.595939438 | None | None | N |
| A/V | 0.4846 | ambiguous | 0.5594 | ambiguous | -0.745 | Destabilizing | 0.982 | D | 0.367 | neutral | N | 0.508278306 | None | None | N |
| A/W | 0.9968 | likely_pathogenic | 0.9991 | pathogenic | -1.586 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/Y | 0.9896 | likely_pathogenic | 0.9965 | pathogenic | -1.16 | Destabilizing | 1.0 | D | 0.874 | 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.