Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4930 | 15013;15014;15015 | chr2:178735658;178735657;178735656 | chr2:179600385;179600384;179600383 |
| N2AB | 4613 | 14062;14063;14064 | chr2:178735658;178735657;178735656 | chr2:179600385;179600384;179600383 |
| N2A | 3686 | 11281;11282;11283 | chr2:178735658;178735657;178735656 | chr2:179600385;179600384;179600383 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs201744218  |
-0.214 | None | N | 0.127 | 0.093 | 0.272639205421 | gnomAD-2.1.1 | 1.00026E-04 | None | None | None | None | N | None | 0 | 7.64613E-04 | None | 9.67E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs201744218 |
-0.214 | None | N | 0.127 | 0.093 | 0.272639205421 | gnomAD-3.1.2 | 1.1177E-04 | None | None | None | None | N | None | 2.41E-05 | 9.82962E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78469E-04 |
| P/A | rs201744218 |
-0.214 | None | N | 0.127 | 0.093 | 0.272639205421 | gnomAD-4.0.0 | 3.96638E-05 | None | None | None | None | N | None | 1.33515E-05 | 8.16993E-04 | None | 3.37838E-05 | 0 | None | 0 | 0 | 5.08569E-06 | 0 | 1.121E-04 |
| P/L | None | None | 0.062 | N | 0.371 | 0.217 | 0.647688206944 | gnomAD-4.0.0 | 1.59153E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02535E-05 |
| P/T | rs201744218 |
-0.404 | 0.002 | N | 0.155 | 0.108 | None | gnomAD-2.1.1 | 1.46466E-04 | None | None | None | None | N | None | 1.40542E-03 | 1.41595E-04 | None | 0 | 5.14E-05 | None | 0 | None | 0 | 0 | 1.40726E-04 |
| P/T | rs201744218 |
-0.404 | 0.002 | N | 0.155 | 0.108 | None | gnomAD-3.1.2 | 4.86522E-04 | None | None | None | None | N | None | 1.5932E-03 | 4.58655E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78469E-04 |
| P/T | rs201744218 |
-0.404 | 0.002 | N | 0.155 | 0.108 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| P/T | rs201744218 |
-0.404 | 0.002 | N | 0.155 | 0.108 | None | gnomAD-4.0.0 | 1.0411E-04 | None | None | None | None | N | None | 1.97281E-03 | 2.16674E-04 | None | 0 | 2.23045E-05 | None | 0 | 0 | 0 | 0 | 9.60523E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0465 | likely_benign | 0.0491 | benign | -0.43 | Destabilizing | None | N | 0.127 | neutral | N | 0.502551676 | None | None | N |
| P/C | 0.2062 | likely_benign | 0.2393 | benign | -0.762 | Destabilizing | 0.824 | D | 0.391 | neutral | None | None | None | None | N |
| P/D | 0.2377 | likely_benign | 0.2902 | benign | -0.403 | Destabilizing | 0.149 | N | 0.318 | neutral | None | None | None | None | N |
| P/E | 0.1632 | likely_benign | 0.1872 | benign | -0.507 | Destabilizing | 0.035 | N | 0.309 | neutral | None | None | None | None | N |
| P/F | 0.1726 | likely_benign | 0.2057 | benign | -0.673 | Destabilizing | 0.555 | D | 0.401 | neutral | None | None | None | None | N |
| P/G | 0.135 | likely_benign | 0.158 | benign | -0.539 | Destabilizing | 0.035 | N | 0.331 | neutral | None | None | None | None | N |
| P/H | 0.1098 | likely_benign | 0.1181 | benign | -0.09 | Destabilizing | 0.555 | D | 0.367 | neutral | None | None | None | None | N |
| P/I | 0.1205 | likely_benign | 0.1405 | benign | -0.284 | Destabilizing | 0.38 | N | 0.423 | neutral | None | None | None | None | N |
| P/K | 0.1555 | likely_benign | 0.1781 | benign | -0.508 | Destabilizing | 0.081 | N | 0.307 | neutral | None | None | None | None | N |
| P/L | 0.0701 | likely_benign | 0.075 | benign | -0.284 | Destabilizing | 0.062 | N | 0.371 | neutral | N | 0.511817793 | None | None | N |
| P/M | 0.1416 | likely_benign | 0.1637 | benign | -0.528 | Destabilizing | 0.555 | D | 0.369 | neutral | None | None | None | None | N |
| P/N | 0.1502 | likely_benign | 0.1813 | benign | -0.31 | Destabilizing | 0.149 | N | 0.376 | neutral | None | None | None | None | N |
| P/Q | 0.0906 | likely_benign | 0.0994 | benign | -0.518 | Destabilizing | 0.005 | N | 0.149 | neutral | N | 0.509091292 | None | None | N |
| P/R | 0.1166 | likely_benign | 0.1238 | benign | -0.023 | Destabilizing | 0.117 | N | 0.371 | neutral | N | 0.512271871 | None | None | N |
| P/S | 0.0693 | likely_benign | 0.0741 | benign | -0.627 | Destabilizing | 0.002 | N | 0.17 | neutral | N | 0.458628255 | None | None | N |
| P/T | 0.0636 | likely_benign | 0.0684 | benign | -0.633 | Destabilizing | 0.002 | N | 0.155 | neutral | N | 0.396813354 | None | None | N |
| P/V | 0.0946 | likely_benign | 0.1051 | benign | -0.301 | Destabilizing | 0.081 | N | 0.358 | neutral | None | None | None | None | N |
| P/W | 0.2724 | likely_benign | 0.3084 | benign | -0.757 | Destabilizing | 0.935 | D | 0.425 | neutral | None | None | None | None | N |
| P/Y | 0.1822 | likely_benign | 0.2085 | benign | -0.471 | Destabilizing | 0.555 | D | 0.408 | 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.