Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30902 | 92929;92930;92931 | chr2:178548922;178548921;178548920 | chr2:179413649;179413648;179413647 |
| N2AB | 29261 | 88006;88007;88008 | chr2:178548922;178548921;178548920 | chr2:179413649;179413648;179413647 |
| N2A | 28334 | 85225;85226;85227 | chr2:178548922;178548921;178548920 | chr2:179413649;179413648;179413647 |
| N2B | 21837 | 65734;65735;65736 | chr2:178548922;178548921;178548920 | chr2:179413649;179413648;179413647 |
| Novex-1 | 21962 | 66109;66110;66111 | chr2:178548922;178548921;178548920 | chr2:179413649;179413648;179413647 |
| Novex-2 | 22029 | 66310;66311;66312 | chr2:178548922;178548921;178548920 | chr2:179413649;179413648;179413647 |
| 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/S | rs749405049  |
None | 0.905 | N | 0.356 | 0.129 | 0.209622950755 | gnomAD-4.0.0 | 1.59111E-06 | None | None | None | None | I | None | 0 | 2.28655E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | None | None | 0.998 | N | 0.716 | 0.254 | 0.398727352345 | gnomAD-4.0.0 | 1.59111E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85788E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3953 | ambiguous | 0.3961 | ambiguous | -0.779 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| A/D | 0.5196 | ambiguous | 0.5631 | ambiguous | -0.63 | Destabilizing | 0.999 | D | 0.81 | deleterious | N | 0.488587667 | None | None | I |
| A/E | 0.3354 | likely_benign | 0.3593 | ambiguous | -0.788 | Destabilizing | 0.999 | D | 0.709 | prob.delet. | None | None | None | None | I |
| A/F | 0.2924 | likely_benign | 0.3156 | benign | -0.908 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| A/G | 0.1879 | likely_benign | 0.1942 | benign | -0.326 | Destabilizing | 0.996 | D | 0.504 | neutral | N | 0.469215964 | None | None | I |
| A/H | 0.5623 | ambiguous | 0.588 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| A/I | 0.1624 | likely_benign | 0.1865 | benign | -0.382 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | I |
| A/K | 0.5192 | ambiguous | 0.5439 | ambiguous | -0.687 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | I |
| A/L | 0.1923 | likely_benign | 0.2121 | benign | -0.382 | Destabilizing | 0.998 | D | 0.661 | neutral | None | None | None | None | I |
| A/M | 0.1942 | likely_benign | 0.211 | benign | -0.441 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| A/N | 0.3752 | ambiguous | 0.4032 | ambiguous | -0.352 | Destabilizing | 0.999 | D | 0.82 | deleterious | None | None | None | None | I |
| A/P | 0.6379 | likely_pathogenic | 0.7191 | pathogenic | -0.319 | Destabilizing | 0.999 | D | 0.759 | deleterious | N | 0.506491339 | None | None | I |
| A/Q | 0.4046 | ambiguous | 0.4164 | ambiguous | -0.655 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| A/R | 0.4537 | ambiguous | 0.4798 | ambiguous | -0.159 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | I |
| A/S | 0.1259 | likely_benign | 0.1221 | benign | -0.533 | Destabilizing | 0.905 | D | 0.356 | neutral | N | 0.514614564 | None | None | I |
| A/T | 0.1092 | likely_benign | 0.1102 | benign | -0.617 | Destabilizing | 0.992 | D | 0.621 | neutral | N | 0.485727284 | None | None | I |
| A/V | 0.0857 | likely_benign | 0.0966 | benign | -0.319 | Destabilizing | 0.998 | D | 0.716 | prob.delet. | N | 0.466532616 | None | None | I |
| A/W | 0.7623 | likely_pathogenic | 0.7793 | pathogenic | -1.027 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| A/Y | 0.5195 | ambiguous | 0.5326 | ambiguous | -0.696 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
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.