Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23318 | 70177;70178;70179 | chr2:178576180;178576179;178576178 | chr2:179440907;179440906;179440905 |
| N2AB | 21677 | 65254;65255;65256 | chr2:178576180;178576179;178576178 | chr2:179440907;179440906;179440905 |
| N2A | 20750 | 62473;62474;62475 | chr2:178576180;178576179;178576178 | chr2:179440907;179440906;179440905 |
| N2B | 14253 | 42982;42983;42984 | chr2:178576180;178576179;178576178 | chr2:179440907;179440906;179440905 |
| Novex-1 | 14378 | 43357;43358;43359 | chr2:178576180;178576179;178576178 | chr2:179440907;179440906;179440905 |
| Novex-2 | 14445 | 43558;43559;43560 | chr2:178576180;178576179;178576178 | chr2:179440907;179440906;179440905 |
| 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/V | None | None | 1.0 | D | 0.677 | 0.654 | 0.729862137799 | gnomAD-4.0.0 | 1.59314E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02755E-05 |
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 | 0.8821 | likely_pathogenic | 0.8881 | pathogenic | -1.944 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| A/D | 0.9972 | likely_pathogenic | 0.9973 | pathogenic | -3.115 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | D | 0.642684896 | None | None | N |
| A/E | 0.996 | likely_pathogenic | 0.9964 | pathogenic | -2.912 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/F | 0.9936 | likely_pathogenic | 0.9936 | pathogenic | -0.945 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/G | 0.5465 | ambiguous | 0.4977 | ambiguous | -2.149 | Highly Destabilizing | 1.0 | D | 0.605 | neutral | D | 0.603691953 | None | None | N |
| A/H | 0.9971 | likely_pathogenic | 0.9972 | pathogenic | -2.14 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/I | 0.9824 | likely_pathogenic | 0.9835 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| A/K | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -1.625 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/L | 0.9467 | likely_pathogenic | 0.9477 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| A/M | 0.9741 | likely_pathogenic | 0.974 | pathogenic | -1.019 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/N | 0.9921 | likely_pathogenic | 0.9922 | pathogenic | -2.04 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| A/P | 0.9735 | likely_pathogenic | 0.9743 | pathogenic | -0.894 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.596807376 | None | None | N |
| A/Q | 0.9911 | likely_pathogenic | 0.9915 | pathogenic | -1.861 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/R | 0.9938 | likely_pathogenic | 0.9939 | pathogenic | -1.586 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| A/S | 0.359 | ambiguous | 0.3634 | ambiguous | -2.406 | Highly Destabilizing | 1.0 | D | 0.596 | neutral | D | 0.579173581 | None | None | N |
| A/T | 0.8398 | likely_pathogenic | 0.843 | pathogenic | -2.094 | Highly Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.609404988 | None | None | N |
| A/V | 0.8936 | likely_pathogenic | 0.8992 | pathogenic | -0.894 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | D | 0.625051101 | None | None | N |
| A/W | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -1.586 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| A/Y | 0.9973 | likely_pathogenic | 0.9972 | pathogenic | -1.208 | Destabilizing | 1.0 | D | 0.881 | 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.