Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5502 | 16729;16730;16731 | chr2:178732557;178732556;178732555 | chr2:179597284;179597283;179597282 |
| N2AB | 5185 | 15778;15779;15780 | chr2:178732557;178732556;178732555 | chr2:179597284;179597283;179597282 |
| N2A | 4258 | 12997;12998;12999 | chr2:178732557;178732556;178732555 | chr2:179597284;179597283;179597282 |
| 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/G | None | None | 0.062 | N | 0.274 | 0.12 | 0.0920862733494 | gnomAD-4.0.0 | 6.84268E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99497E-07 | 0 | 0 |
| A/V | rs1257068950  |
-0.189 | 0.062 | N | 0.257 | 0.119 | 0.211220785272 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/V | rs1257068950 |
-0.189 | 0.062 | N | 0.257 | 0.119 | 0.211220785272 | gnomAD-4.0.0 | 1.16326E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 3.46981E-04 | 1.2593E-05 | 1.15937E-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 | 0.3928 | ambiguous | 0.4175 | ambiguous | -0.806 | Destabilizing | 0.824 | D | 0.253 | neutral | None | None | None | None | N |
| A/D | 0.116 | likely_benign | 0.1295 | benign | -0.659 | Destabilizing | 0.062 | N | 0.357 | neutral | N | 0.339669305 | None | None | N |
| A/E | 0.1327 | likely_benign | 0.1537 | benign | -0.728 | Destabilizing | 0.081 | N | 0.297 | neutral | None | None | None | None | N |
| A/F | 0.1821 | likely_benign | 0.2034 | benign | -0.704 | Destabilizing | 0.235 | N | 0.355 | neutral | None | None | None | None | N |
| A/G | 0.0879 | likely_benign | 0.087 | benign | -0.569 | Destabilizing | 0.062 | N | 0.274 | neutral | N | 0.379184911 | None | None | N |
| A/H | 0.2721 | likely_benign | 0.316 | benign | -0.454 | Destabilizing | 0.555 | D | 0.338 | neutral | None | None | None | None | N |
| A/I | 0.1432 | likely_benign | 0.173 | benign | -0.192 | Destabilizing | 0.235 | N | 0.267 | neutral | None | None | None | None | N |
| A/K | 0.2293 | likely_benign | 0.2776 | benign | -0.829 | Destabilizing | 0.081 | N | 0.293 | neutral | None | None | None | None | N |
| A/L | 0.1169 | likely_benign | 0.1304 | benign | -0.192 | Destabilizing | 0.081 | N | 0.29 | neutral | None | None | None | None | N |
| A/M | 0.1398 | likely_benign | 0.1612 | benign | -0.493 | Destabilizing | 0.824 | D | 0.254 | neutral | None | None | None | None | N |
| A/N | 0.1054 | likely_benign | 0.1133 | benign | -0.634 | Destabilizing | 0.001 | N | 0.259 | neutral | None | None | None | None | N |
| A/P | 0.0986 | likely_benign | 0.1145 | benign | -0.232 | Destabilizing | 0.484 | N | 0.264 | neutral | N | 0.433254256 | None | None | N |
| A/Q | 0.1939 | likely_benign | 0.2271 | benign | -0.797 | Destabilizing | 0.38 | N | 0.264 | neutral | None | None | None | None | N |
| A/R | 0.2242 | likely_benign | 0.2623 | benign | -0.426 | Destabilizing | 0.38 | N | 0.275 | neutral | None | None | None | None | N |
| A/S | 0.0686 | likely_benign | 0.0686 | benign | -0.875 | Destabilizing | None | N | 0.167 | neutral | N | 0.414167063 | None | None | N |
| A/T | 0.0721 | likely_benign | 0.0809 | benign | -0.849 | Destabilizing | None | N | 0.137 | neutral | N | 0.429291231 | None | None | N |
| A/V | 0.0897 | likely_benign | 0.1003 | benign | -0.232 | Destabilizing | 0.062 | N | 0.257 | neutral | N | 0.450090578 | None | None | N |
| A/W | 0.4767 | ambiguous | 0.526 | ambiguous | -0.941 | Destabilizing | 0.935 | D | 0.437 | neutral | None | None | None | None | N |
| A/Y | 0.2514 | likely_benign | 0.2822 | benign | -0.556 | Destabilizing | 0.005 | N | 0.295 | neutral | 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.