Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25381 | 76366;76367;76368 | chr2:178569991;178569990;178569989 | chr2:179434718;179434717;179434716 |
| N2AB | 23740 | 71443;71444;71445 | chr2:178569991;178569990;178569989 | chr2:179434718;179434717;179434716 |
| N2A | 22813 | 68662;68663;68664 | chr2:178569991;178569990;178569989 | chr2:179434718;179434717;179434716 |
| N2B | 16316 | 49171;49172;49173 | chr2:178569991;178569990;178569989 | chr2:179434718;179434717;179434716 |
| Novex-1 | 16441 | 49546;49547;49548 | chr2:178569991;178569990;178569989 | chr2:179434718;179434717;179434716 |
| Novex-2 | 16508 | 49747;49748;49749 | chr2:178569991;178569990;178569989 | chr2:179434718;179434717;179434716 |
| 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 | rs763636099  |
-2.004 | 1.0 | D | 0.786 | 0.603 | 0.656398299794 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| A/T | rs763636099 |
-2.004 | 1.0 | D | 0.786 | 0.603 | 0.656398299794 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs763636099 |
-2.004 | 1.0 | D | 0.786 | 0.603 | 0.656398299794 | gnomAD-4.0.0 | 4.96216E-06 | None | None | None | None | N | None | 6.68217E-05 | 3.33934E-05 | None | 0 | 0 | None | 0 | 0 | 8.48241E-07 | 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 | 0.7582 | likely_pathogenic | 0.7815 | pathogenic | -2.071 | Highly Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| A/D | 0.9988 | likely_pathogenic | 0.9983 | pathogenic | -3.057 | Highly Destabilizing | 1.0 | D | 0.814 | deleterious | D | 0.662651056 | None | None | N |
| A/E | 0.9976 | likely_pathogenic | 0.9963 | pathogenic | -2.839 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| A/F | 0.9931 | likely_pathogenic | 0.9902 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/G | 0.6011 | likely_pathogenic | 0.6718 | pathogenic | -2.307 | Highly Destabilizing | 1.0 | D | 0.636 | neutral | D | 0.623658113 | None | None | N |
| A/H | 0.9984 | likely_pathogenic | 0.9977 | pathogenic | -2.017 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| A/I | 0.9678 | likely_pathogenic | 0.9452 | pathogenic | -0.801 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/K | 0.9993 | likely_pathogenic | 0.9988 | pathogenic | -1.533 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/L | 0.9156 | likely_pathogenic | 0.8917 | pathogenic | -0.801 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| A/M | 0.955 | likely_pathogenic | 0.9349 | pathogenic | -1.401 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/N | 0.9962 | likely_pathogenic | 0.9947 | pathogenic | -2.023 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| A/P | 0.9898 | likely_pathogenic | 0.9884 | pathogenic | -1.14 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.630006921 | None | None | N |
| A/Q | 0.9936 | likely_pathogenic | 0.9907 | pathogenic | -1.806 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| A/R | 0.996 | likely_pathogenic | 0.993 | pathogenic | -1.549 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| A/S | 0.4317 | ambiguous | 0.4244 | ambiguous | -2.355 | Highly Destabilizing | 1.0 | D | 0.626 | neutral | D | 0.58312038 | None | None | N |
| A/T | 0.7678 | likely_pathogenic | 0.6986 | pathogenic | -2.032 | Highly Destabilizing | 1.0 | D | 0.786 | deleterious | D | 0.620084562 | None | None | N |
| A/V | 0.8007 | likely_pathogenic | 0.7088 | pathogenic | -1.14 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | D | 0.63549851 | None | None | N |
| A/W | 0.9995 | likely_pathogenic | 0.9991 | pathogenic | -1.399 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| A/Y | 0.9978 | likely_pathogenic | 0.9968 | pathogenic | -1.14 | Destabilizing | 1.0 | D | 0.864 | 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.