Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14188 | 42787;42788;42789 | chr2:178633937;178633936;178633935 | chr2:179498664;179498663;179498662 |
| N2AB | 12547 | 37864;37865;37866 | chr2:178633937;178633936;178633935 | chr2:179498664;179498663;179498662 |
| N2A | 11620 | 35083;35084;35085 | chr2:178633937;178633936;178633935 | chr2:179498664;179498663;179498662 |
| N2B | 5123 | 15592;15593;15594 | chr2:178633937;178633936;178633935 | chr2:179498664;179498663;179498662 |
| Novex-1 | 5248 | 15967;15968;15969 | chr2:178633937;178633936;178633935 | chr2:179498664;179498663;179498662 |
| Novex-2 | 5315 | 16168;16169;16170 | chr2:178633937;178633936;178633935 | chr2:179498664;179498663;179498662 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs558930798  |
-0.752 | 0.007 | N | 0.19 | 0.123 | 0.628906646486 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.91E-06 | 0 |
| L/F | rs558930798 |
-0.752 | 0.007 | N | 0.19 | 0.123 | 0.628906646486 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 2.07125E-04 | 0 |
| L/F | rs558930798 |
-0.752 | 0.007 | N | 0.19 | 0.123 | 0.628906646486 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| L/F | rs558930798 |
-0.752 | 0.007 | N | 0.19 | 0.123 | 0.628906646486 | gnomAD-4.0.0 | 3.71888E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23887E-06 | 1.09801E-05 | 0 |
| L/R | None | None | 0.782 | N | 0.609 | 0.33 | 0.731283324975 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62501E-06 | 0 | 0 |
| L/V | None | None | 0.013 | N | 0.195 | 0.122 | 0.570372710236 | gnomAD-4.0.0 | 6.84339E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99622E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.1664 | likely_benign | 0.1857 | benign | -1.648 | Destabilizing | 0.575 | D | 0.411 | neutral | None | None | None | None | N |
| L/C | 0.3727 | ambiguous | 0.3685 | ambiguous | -1.205 | Destabilizing | 0.991 | D | 0.551 | neutral | None | None | None | None | N |
| L/D | 0.4717 | ambiguous | 0.5507 | ambiguous | -0.769 | Destabilizing | 0.826 | D | 0.633 | neutral | None | None | None | None | N |
| L/E | 0.23 | likely_benign | 0.2781 | benign | -0.751 | Destabilizing | 0.704 | D | 0.582 | neutral | None | None | None | None | N |
| L/F | 0.0979 | likely_benign | 0.0897 | benign | -1.158 | Destabilizing | 0.007 | N | 0.19 | neutral | N | 0.498845922 | None | None | N |
| L/G | 0.4169 | ambiguous | 0.503 | ambiguous | -1.973 | Destabilizing | 0.826 | D | 0.573 | neutral | None | None | None | None | N |
| L/H | 0.1129 | likely_benign | 0.1195 | benign | -1.145 | Destabilizing | 0.003 | N | 0.345 | neutral | N | 0.502100758 | None | None | N |
| L/I | 0.0745 | likely_benign | 0.0648 | benign | -0.826 | Destabilizing | 0.338 | N | 0.379 | neutral | N | 0.504786338 | None | None | N |
| L/K | 0.1437 | likely_benign | 0.1907 | benign | -0.957 | Destabilizing | 0.826 | D | 0.557 | neutral | None | None | None | None | N |
| L/M | 0.0973 | likely_benign | 0.0903 | benign | -0.763 | Destabilizing | 0.906 | D | 0.473 | neutral | None | None | None | None | N |
| L/N | 0.2041 | likely_benign | 0.2371 | benign | -0.804 | Destabilizing | 0.704 | D | 0.634 | neutral | None | None | None | None | N |
| L/P | 0.8944 | likely_pathogenic | 0.9207 | pathogenic | -1.069 | Destabilizing | 0.879 | D | 0.642 | neutral | D | 0.539377662 | None | None | N |
| L/Q | 0.0939 | likely_benign | 0.1023 | benign | -0.969 | Destabilizing | 0.826 | D | 0.611 | neutral | None | None | None | None | N |
| L/R | 0.1164 | likely_benign | 0.138 | benign | -0.458 | Destabilizing | 0.782 | D | 0.609 | neutral | N | 0.467330648 | None | None | N |
| L/S | 0.1705 | likely_benign | 0.1747 | benign | -1.528 | Destabilizing | 0.826 | D | 0.524 | neutral | None | None | None | None | N |
| L/T | 0.1372 | likely_benign | 0.1369 | benign | -1.389 | Destabilizing | 0.826 | D | 0.459 | neutral | None | None | None | None | N |
| L/V | 0.0781 | likely_benign | 0.0693 | benign | -1.069 | Destabilizing | 0.013 | N | 0.195 | neutral | N | 0.488902093 | None | None | N |
| L/W | 0.2079 | likely_benign | 0.1944 | benign | -1.175 | Destabilizing | 0.991 | D | 0.638 | neutral | None | None | None | None | N |
| L/Y | 0.2282 | likely_benign | 0.2293 | benign | -0.936 | Destabilizing | 0.704 | D | 0.47 | 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.