Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17843 | 53752;53753;53754 | chr2:178607075;178607074;178607073 | chr2:179471802;179471801;179471800 |
| N2AB | 16202 | 48829;48830;48831 | chr2:178607075;178607074;178607073 | chr2:179471802;179471801;179471800 |
| N2A | 15275 | 46048;46049;46050 | chr2:178607075;178607074;178607073 | chr2:179471802;179471801;179471800 |
| N2B | 8778 | 26557;26558;26559 | chr2:178607075;178607074;178607073 | chr2:179471802;179471801;179471800 |
| Novex-1 | 8903 | 26932;26933;26934 | chr2:178607075;178607074;178607073 | chr2:179471802;179471801;179471800 |
| Novex-2 | 8970 | 27133;27134;27135 | chr2:178607075;178607074;178607073 | chr2:179471802;179471801;179471800 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/V | None | None | 0.961 | N | 0.494 | 0.451 | 0.369495900351 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| F/Y | rs1425791668  |
-0.112 | 0.044 | N | 0.21 | 0.179 | 0.208000267992 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| F/Y | rs1425791668 |
-0.112 | 0.044 | N | 0.21 | 0.179 | 0.208000267992 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| F/Y | rs1425791668 |
-0.112 | 0.044 | N | 0.21 | 0.179 | 0.208000267992 | gnomAD-4.0.0 | 6.58007E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47184E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9521 | likely_pathogenic | 0.9086 | pathogenic | -0.808 | Destabilizing | 0.985 | D | 0.559 | neutral | None | None | None | None | I |
| F/C | 0.7803 | likely_pathogenic | 0.671 | pathogenic | -0.335 | Destabilizing | 1.0 | D | 0.619 | neutral | N | 0.439884732 | None | None | I |
| F/D | 0.9878 | likely_pathogenic | 0.9782 | pathogenic | 0.844 | Stabilizing | 0.999 | D | 0.625 | neutral | None | None | None | None | I |
| F/E | 0.9882 | likely_pathogenic | 0.9803 | pathogenic | 0.816 | Stabilizing | 0.999 | D | 0.603 | neutral | None | None | None | None | I |
| F/G | 0.983 | likely_pathogenic | 0.9717 | pathogenic | -0.986 | Destabilizing | 0.999 | D | 0.573 | neutral | None | None | None | None | I |
| F/H | 0.7985 | likely_pathogenic | 0.7353 | pathogenic | 0.327 | Stabilizing | 0.991 | D | 0.516 | neutral | None | None | None | None | I |
| F/I | 0.7626 | likely_pathogenic | 0.6862 | pathogenic | -0.369 | Destabilizing | 0.98 | D | 0.454 | neutral | N | 0.421701616 | None | None | I |
| F/K | 0.9842 | likely_pathogenic | 0.9769 | pathogenic | -0.007 | Destabilizing | 0.996 | D | 0.608 | neutral | None | None | None | None | I |
| F/L | 0.983 | likely_pathogenic | 0.9777 | pathogenic | -0.369 | Destabilizing | 0.91 | D | 0.434 | neutral | N | 0.42939838 | None | None | I |
| F/M | 0.8891 | likely_pathogenic | 0.8668 | pathogenic | -0.333 | Destabilizing | 0.999 | D | 0.431 | neutral | None | None | None | None | I |
| F/N | 0.9151 | likely_pathogenic | 0.8724 | pathogenic | 0.032 | Stabilizing | 0.999 | D | 0.621 | neutral | None | None | None | None | I |
| F/P | 0.9991 | likely_pathogenic | 0.9985 | pathogenic | -0.496 | Destabilizing | 0.999 | D | 0.625 | neutral | None | None | None | None | I |
| F/Q | 0.9675 | likely_pathogenic | 0.9488 | pathogenic | -0.017 | Destabilizing | 0.999 | D | 0.62 | neutral | None | None | None | None | I |
| F/R | 0.9628 | likely_pathogenic | 0.9419 | pathogenic | 0.421 | Stabilizing | 0.996 | D | 0.621 | neutral | None | None | None | None | I |
| F/S | 0.9427 | likely_pathogenic | 0.8784 | pathogenic | -0.643 | Destabilizing | 0.994 | D | 0.557 | neutral | N | 0.455006113 | None | None | I |
| F/T | 0.9591 | likely_pathogenic | 0.9217 | pathogenic | -0.578 | Destabilizing | 0.996 | D | 0.558 | neutral | None | None | None | None | I |
| F/V | 0.7747 | likely_pathogenic | 0.6788 | pathogenic | -0.496 | Destabilizing | 0.961 | D | 0.494 | neutral | N | 0.41285006 | None | None | I |
| F/W | 0.632 | likely_pathogenic | 0.5828 | pathogenic | -0.227 | Destabilizing | 0.996 | D | 0.453 | neutral | None | None | None | None | I |
| F/Y | 0.1497 | likely_benign | 0.1353 | benign | -0.189 | Destabilizing | 0.044 | N | 0.21 | neutral | N | 0.363040102 | 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.