Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8895 | 26908;26909;26910 | chr2:178713975;178713974;178713973 | chr2:179578702;179578701;179578700 |
| N2AB | 8578 | 25957;25958;25959 | chr2:178713975;178713974;178713973 | chr2:179578702;179578701;179578700 |
| N2A | 7651 | 23176;23177;23178 | chr2:178713975;178713974;178713973 | chr2:179578702;179578701;179578700 |
| 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/N | rs752659193  |
0.212 | None | N | 0.053 | 0.06 | 0.0611884634855 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| S/N | rs752659193 |
0.212 | None | N | 0.053 | 0.06 | 0.0611884634855 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 4.77555E-04 |
| S/N | rs752659193 |
0.212 | None | N | 0.053 | 0.06 | 0.0611884634855 | gnomAD-4.0.0 | 6.81732E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.4768E-06 | 0 | 1.60143E-05 |
| S/T | rs752659193 |
0.128 | 0.007 | N | 0.167 | 0.027 | 0.0666544352282 | 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/T | rs752659193 |
0.128 | 0.007 | N | 0.167 | 0.027 | 0.0666544352282 | gnomAD-4.0.0 | 1.02644E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.25936E-05 | 1.15961E-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 | 0.0669 | likely_benign | 0.0679 | benign | -0.248 | Destabilizing | 0.002 | N | 0.129 | neutral | None | None | None | None | N |
| S/C | 0.1116 | likely_benign | 0.1158 | benign | -0.285 | Destabilizing | 0.427 | N | 0.276 | neutral | N | 0.505337752 | None | None | N |
| S/D | 0.12 | likely_benign | 0.1545 | benign | 0.062 | Stabilizing | 0.009 | N | 0.156 | neutral | None | None | None | None | N |
| S/E | 0.1647 | likely_benign | 0.184 | benign | -0.049 | Destabilizing | None | N | 0.079 | neutral | None | None | None | None | N |
| S/F | 0.1664 | likely_benign | 0.1861 | benign | -1.0 | Destabilizing | 0.044 | N | 0.393 | neutral | None | None | None | None | N |
| S/G | 0.0588 | likely_benign | 0.0594 | benign | -0.292 | Destabilizing | None | N | 0.047 | neutral | N | 0.506061291 | None | None | N |
| S/H | 0.1514 | likely_benign | 0.1836 | benign | -0.683 | Destabilizing | 0.138 | N | 0.261 | neutral | None | None | None | None | N |
| S/I | 0.0884 | likely_benign | 0.1054 | benign | -0.263 | Destabilizing | None | N | 0.143 | neutral | N | 0.473243846 | None | None | N |
| S/K | 0.1855 | likely_benign | 0.2294 | benign | -0.347 | Destabilizing | 0.009 | N | 0.157 | neutral | None | None | None | None | N |
| S/L | 0.0896 | likely_benign | 0.0968 | benign | -0.263 | Destabilizing | None | N | 0.084 | neutral | None | None | None | None | N |
| S/M | 0.1454 | likely_benign | 0.1583 | benign | -0.092 | Destabilizing | 0.002 | N | 0.159 | neutral | None | None | None | None | N |
| S/N | 0.0712 | likely_benign | 0.0835 | benign | -0.098 | Destabilizing | None | N | 0.053 | neutral | N | 0.484704584 | None | None | N |
| S/P | 0.1883 | likely_benign | 0.1965 | benign | -0.234 | Destabilizing | 0.085 | N | 0.296 | neutral | None | None | None | None | N |
| S/Q | 0.1846 | likely_benign | 0.2222 | benign | -0.342 | Destabilizing | 0.001 | N | 0.087 | neutral | None | None | None | None | N |
| S/R | 0.1564 | likely_benign | 0.1958 | benign | -0.114 | Destabilizing | None | N | 0.153 | neutral | N | 0.486206094 | None | None | N |
| S/T | 0.0706 | likely_benign | 0.079 | benign | -0.218 | Destabilizing | 0.007 | N | 0.167 | neutral | N | 0.504445138 | None | None | N |
| S/V | 0.1076 | likely_benign | 0.123 | benign | -0.234 | Destabilizing | None | N | 0.091 | neutral | None | None | None | None | N |
| S/W | 0.2287 | likely_benign | 0.247 | benign | -1.062 | Destabilizing | 0.788 | D | 0.341 | neutral | None | None | None | None | N |
| S/Y | 0.14 | likely_benign | 0.1707 | benign | -0.753 | Destabilizing | 0.22 | N | 0.377 | 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.