Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9223 | 27892;27893;27894 | chr2:178712163;178712162;178712161 | chr2:179576890;179576889;179576888 |
| N2AB | 8906 | 26941;26942;26943 | chr2:178712163;178712162;178712161 | chr2:179576890;179576889;179576888 |
| N2A | 7979 | 24160;24161;24162 | chr2:178712163;178712162;178712161 | chr2:179576890;179576889;179576888 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs778581432  |
-0.756 | 0.976 | N | 0.594 | 0.229 | 0.41518383557 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/F | rs778581432 |
-0.756 | 0.976 | N | 0.594 | 0.229 | 0.41518383557 | gnomAD-4.0.0 | 6.84208E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.04358E-04 | 1.65645E-05 |
| S/P | rs201253546 |
-0.01 | 0.996 | N | 0.601 | 0.307 | None | gnomAD-2.1.1 | 8.93E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.95471E-04 | 0 |
| S/P | rs201253546 |
-0.01 | 0.996 | N | 0.601 | 0.307 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| S/P | rs201253546 |
-0.01 | 0.996 | N | 0.601 | 0.307 | None | gnomAD-4.0.0 | 4.2758E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.59417E-05 | 0 | 4.80292E-05 |
| S/Y | None | None | 0.996 | N | 0.585 | 0.247 | 0.42264334713 | gnomAD-4.0.0 | 6.84208E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15953E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0917 | likely_benign | 0.106 | benign | -0.485 | Destabilizing | 0.675 | D | 0.376 | neutral | N | 0.491321125 | None | None | N |
| S/C | 0.1481 | likely_benign | 0.1785 | benign | -0.402 | Destabilizing | 0.035 | N | 0.332 | neutral | N | 0.488782252 | None | None | N |
| S/D | 0.6532 | likely_pathogenic | 0.7069 | pathogenic | 0.373 | Stabilizing | 0.884 | D | 0.493 | neutral | None | None | None | None | N |
| S/E | 0.6372 | likely_pathogenic | 0.6778 | pathogenic | 0.361 | Stabilizing | 0.17 | N | 0.295 | neutral | None | None | None | None | N |
| S/F | 0.1655 | likely_benign | 0.208 | benign | -0.823 | Destabilizing | 0.976 | D | 0.594 | neutral | N | 0.504154349 | None | None | N |
| S/G | 0.1805 | likely_benign | 0.2396 | benign | -0.701 | Destabilizing | 0.969 | D | 0.517 | neutral | None | None | None | None | N |
| S/H | 0.3913 | ambiguous | 0.4406 | ambiguous | -1.083 | Destabilizing | 0.997 | D | 0.573 | neutral | None | None | None | None | N |
| S/I | 0.1382 | likely_benign | 0.1718 | benign | -0.031 | Destabilizing | 0.884 | D | 0.55 | neutral | None | None | None | None | N |
| S/K | 0.7537 | likely_pathogenic | 0.7865 | pathogenic | -0.348 | Destabilizing | 0.939 | D | 0.491 | neutral | None | None | None | None | N |
| S/L | 0.1013 | likely_benign | 0.1179 | benign | -0.031 | Destabilizing | 0.046 | N | 0.429 | neutral | None | None | None | None | N |
| S/M | 0.2162 | likely_benign | 0.2342 | benign | -0.044 | Destabilizing | 0.982 | D | 0.583 | neutral | None | None | None | None | N |
| S/N | 0.2159 | likely_benign | 0.2569 | benign | -0.32 | Destabilizing | 0.969 | D | 0.501 | neutral | None | None | None | None | N |
| S/P | 0.8773 | likely_pathogenic | 0.8945 | pathogenic | -0.149 | Destabilizing | 0.996 | D | 0.601 | neutral | N | 0.483013081 | None | None | N |
| S/Q | 0.5604 | ambiguous | 0.5997 | pathogenic | -0.394 | Destabilizing | 0.982 | D | 0.549 | neutral | None | None | None | None | N |
| S/R | 0.6304 | likely_pathogenic | 0.7065 | pathogenic | -0.292 | Destabilizing | 0.982 | D | 0.599 | neutral | None | None | None | None | N |
| S/T | 0.0783 | likely_benign | 0.0868 | benign | -0.362 | Destabilizing | 0.906 | D | 0.529 | neutral | N | 0.398157461 | None | None | N |
| S/V | 0.1405 | likely_benign | 0.1661 | benign | -0.149 | Destabilizing | 0.884 | D | 0.558 | neutral | None | None | None | None | N |
| S/W | 0.4164 | ambiguous | 0.5184 | ambiguous | -0.842 | Destabilizing | 0.999 | D | 0.587 | neutral | None | None | None | None | N |
| S/Y | 0.185 | likely_benign | 0.2201 | benign | -0.525 | Destabilizing | 0.996 | D | 0.585 | neutral | N | 0.513581909 | 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.