Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29396 | 88411;88412;88413 | chr2:178556968;178556967;178556966 | chr2:179421695;179421694;179421693 |
| N2AB | 27755 | 83488;83489;83490 | chr2:178556968;178556967;178556966 | chr2:179421695;179421694;179421693 |
| N2A | 26828 | 80707;80708;80709 | chr2:178556968;178556967;178556966 | chr2:179421695;179421694;179421693 |
| N2B | 20331 | 61216;61217;61218 | chr2:178556968;178556967;178556966 | chr2:179421695;179421694;179421693 |
| Novex-1 | 20456 | 61591;61592;61593 | chr2:178556968;178556967;178556966 | chr2:179421695;179421694;179421693 |
| Novex-2 | 20523 | 61792;61793;61794 | chr2:178556968;178556967;178556966 | chr2:179421695;179421694;179421693 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs9808377  |
-0.711 | None | N | 0.149 | 0.124 | None | gnomAD-2.1.1 | 3.50522E-01 | None | None | None | None | I | None | 5.42256E-01 | 4.23746E-01 | None | 2.78498E-01 | 7.02878E-01 | None | 5.14548E-01 | None | 2.76288E-01 | 2.24288E-01 | 3.04806E-01 |
| I/T | rs9808377 |
-0.711 | None | N | 0.149 | 0.124 | None | gnomAD-3.1.2 | 3.60337E-01 | None | None | None | None | I | None | 5.41715E-01 | 3.81193E-01 | 5.62637E-01 | 2.82421E-01 | 6.98952E-01 | None | 2.84864E-01 | 2.73885E-01 | 2.23289E-01 | 5.15346E-01 | 3.25837E-01 |
| I/T | rs9808377 |
-0.711 | None | N | 0.149 | 0.124 | None | 1000 genomes | 5.07188E-01 | None | None | None | None | I | None | 5.666E-01 | 4.049E-01 | None | None | 7.153E-01 | 2.495E-01 | None | None | None | 5.501E-01 | None |
| I/T | rs9808377 |
-0.711 | None | N | 0.149 | 0.124 | None | gnomAD-4.0.0 | 2.75309E-01 | None | None | None | None | I | None | 5.47996E-01 | 4.12577E-01 | None | 2.79358E-01 | 6.93195E-01 | None | 2.78052E-01 | 3.04886E-01 | 2.15479E-01 | 5.03712E-01 | 3.02279E-01 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.0946 | likely_benign | 0.1058 | benign | -0.901 | Destabilizing | 0.002 | N | 0.232 | neutral | None | None | None | None | I |
| I/C | 0.2935 | likely_benign | 0.3069 | benign | -0.835 | Destabilizing | 0.245 | N | 0.437 | neutral | None | None | None | None | I |
| I/D | 0.2729 | likely_benign | 0.2451 | benign | 0.284 | Stabilizing | 0.018 | N | 0.301 | neutral | None | None | None | None | I |
| I/E | 0.2371 | likely_benign | 0.2239 | benign | 0.277 | Stabilizing | 0.018 | N | 0.29 | neutral | None | None | None | None | I |
| I/F | 0.128 | likely_benign | 0.1144 | benign | -0.467 | Destabilizing | 0.033 | N | 0.343 | neutral | N | 0.484099656 | None | None | I |
| I/G | 0.2689 | likely_benign | 0.2734 | benign | -1.164 | Destabilizing | 0.008 | N | 0.257 | neutral | None | None | None | None | I |
| I/H | 0.1744 | likely_benign | 0.1824 | benign | -0.257 | Destabilizing | 0.497 | N | 0.477 | neutral | None | None | None | None | I |
| I/K | 0.1662 | likely_benign | 0.1653 | benign | -0.427 | Destabilizing | 0.018 | N | 0.293 | neutral | None | None | None | None | I |
| I/L | 0.0802 | likely_benign | 0.0747 | benign | -0.285 | Destabilizing | 0.001 | N | 0.181 | neutral | N | 0.422549765 | None | None | I |
| I/M | 0.0721 | likely_benign | 0.075 | benign | -0.465 | Destabilizing | 0.108 | N | 0.429 | neutral | N | 0.460337362 | None | None | I |
| I/N | 0.0771 | likely_benign | 0.0796 | benign | -0.368 | Destabilizing | 0.014 | N | 0.343 | neutral | N | 0.397230033 | None | None | I |
| I/P | 0.3042 | likely_benign | 0.3288 | benign | -0.457 | Destabilizing | 0.085 | N | 0.435 | neutral | None | None | None | None | I |
| I/Q | 0.1505 | likely_benign | 0.156 | benign | -0.448 | Destabilizing | 0.085 | N | 0.516 | neutral | None | None | None | None | I |
| I/R | 0.1248 | likely_benign | 0.1205 | benign | 0.005 | Stabilizing | 0.044 | N | 0.449 | neutral | None | None | None | None | I |
| I/S | 0.0725 | likely_benign | 0.081 | benign | -1.029 | Destabilizing | None | N | 0.219 | neutral | N | 0.424531278 | None | None | I |
| I/T | 0.0487 | likely_benign | 0.0518 | benign | -0.907 | Destabilizing | None | N | 0.149 | neutral | N | 0.281592154 | None | None | I |
| I/V | 0.065 | likely_benign | 0.0608 | benign | -0.457 | Destabilizing | None | N | 0.096 | neutral | N | 0.37058215 | None | None | I |
| I/W | 0.5931 | likely_pathogenic | 0.5778 | pathogenic | -0.488 | Destabilizing | 0.788 | D | 0.459 | neutral | None | None | None | None | I |
| I/Y | 0.2778 | likely_benign | 0.2748 | benign | -0.255 | Destabilizing | 0.085 | N | 0.487 | neutral | None | None | None | None | I |
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.