Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30451 | 91576;91577;91578 | chr2:178551180;178551179;178551178 | chr2:179415907;179415906;179415905 |
| N2AB | 28810 | 86653;86654;86655 | chr2:178551180;178551179;178551178 | chr2:179415907;179415906;179415905 |
| N2A | 27883 | 83872;83873;83874 | chr2:178551180;178551179;178551178 | chr2:179415907;179415906;179415905 |
| N2B | 21386 | 64381;64382;64383 | chr2:178551180;178551179;178551178 | chr2:179415907;179415906;179415905 |
| Novex-1 | 21511 | 64756;64757;64758 | chr2:178551180;178551179;178551178 | chr2:179415907;179415906;179415905 |
| Novex-2 | 21578 | 64957;64958;64959 | chr2:178551180;178551179;178551178 | chr2:179415907;179415906;179415905 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs751610164  |
-0.116 | 1.0 | N | 0.733 | 0.475 | None | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | I | None | 0 | 1.16009E-04 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| G/D | rs751610164 |
-0.116 | 1.0 | N | 0.733 | 0.475 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs751610164 |
-0.116 | 1.0 | N | 0.733 | 0.475 | None | gnomAD-4.0.0 | 3.09891E-05 | None | None | None | None | I | None | 0 | 1.00053E-04 | None | 0 | 0 | None | 0 | 0 | 3.7298E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7608 | likely_pathogenic | 0.7422 | pathogenic | -0.192 | Destabilizing | 0.998 | D | 0.499 | neutral | N | 0.49276622 | None | None | I |
| G/C | 0.8568 | likely_pathogenic | 0.8473 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.532964429 | None | None | I |
| G/D | 0.9423 | likely_pathogenic | 0.9443 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.50923786 | None | None | I |
| G/E | 0.963 | likely_pathogenic | 0.9603 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/F | 0.9681 | likely_pathogenic | 0.9691 | pathogenic | -1.002 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/H | 0.9611 | likely_pathogenic | 0.9557 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/I | 0.9519 | likely_pathogenic | 0.9532 | pathogenic | -0.468 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/K | 0.9666 | likely_pathogenic | 0.9649 | pathogenic | -0.54 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/L | 0.9538 | likely_pathogenic | 0.9543 | pathogenic | -0.468 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/M | 0.9686 | likely_pathogenic | 0.9668 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| G/N | 0.8987 | likely_pathogenic | 0.8873 | pathogenic | -0.262 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | I |
| G/P | 0.9939 | likely_pathogenic | 0.9942 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/Q | 0.9448 | likely_pathogenic | 0.9362 | pathogenic | -0.542 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/R | 0.9197 | likely_pathogenic | 0.9188 | pathogenic | -0.128 | Destabilizing | 1.0 | D | 0.834 | deleterious | N | 0.50299689 | None | None | I |
| G/S | 0.5765 | likely_pathogenic | 0.5218 | ambiguous | -0.391 | Destabilizing | 0.991 | D | 0.632 | neutral | N | 0.500666258 | None | None | I |
| G/T | 0.8884 | likely_pathogenic | 0.8721 | pathogenic | -0.49 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/V | 0.9352 | likely_pathogenic | 0.9351 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.544320735 | None | None | I |
| G/W | 0.9632 | likely_pathogenic | 0.9671 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/Y | 0.9573 | likely_pathogenic | 0.9556 | pathogenic | -0.78 | Destabilizing | 1.0 | D | 0.831 | deleterious | 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.