Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24047 | 72364;72365;72366 | chr2:178573993;178573992;178573991 | chr2:179438720;179438719;179438718 |
| N2AB | 22406 | 67441;67442;67443 | chr2:178573993;178573992;178573991 | chr2:179438720;179438719;179438718 |
| N2A | 21479 | 64660;64661;64662 | chr2:178573993;178573992;178573991 | chr2:179438720;179438719;179438718 |
| N2B | 14982 | 45169;45170;45171 | chr2:178573993;178573992;178573991 | chr2:179438720;179438719;179438718 |
| Novex-1 | 15107 | 45544;45545;45546 | chr2:178573993;178573992;178573991 | chr2:179438720;179438719;179438718 |
| Novex-2 | 15174 | 45745;45746;45747 | chr2:178573993;178573992;178573991 | chr2:179438720;179438719;179438718 |
| 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/L | rs1709172090  |
None | 0.999 | N | 0.551 | 0.476 | 0.20549828249 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| F/L | rs1709172090 |
None | 0.999 | N | 0.551 | 0.476 | 0.20549828249 | gnomAD-4.0.0 | 4.3391E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93416E-06 | 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 | 0.9644 | likely_pathogenic | 0.9727 | pathogenic | -2.52 | Highly Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| F/C | 0.7693 | likely_pathogenic | 0.8318 | pathogenic | -2.117 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | N | 0.454691383 | None | None | N |
| F/D | 0.9969 | likely_pathogenic | 0.9968 | pathogenic | -2.717 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| F/E | 0.9962 | likely_pathogenic | 0.9963 | pathogenic | -2.501 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| F/G | 0.9867 | likely_pathogenic | 0.9882 | pathogenic | -2.969 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| F/H | 0.9658 | likely_pathogenic | 0.9661 | pathogenic | -1.604 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| F/I | 0.5203 | ambiguous | 0.5858 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | N | 0.409337247 | None | None | N |
| F/K | 0.9953 | likely_pathogenic | 0.9948 | pathogenic | -2.38 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| F/L | 0.9355 | likely_pathogenic | 0.9518 | pathogenic | -1.072 | Destabilizing | 0.999 | D | 0.551 | neutral | N | 0.380475777 | None | None | N |
| F/M | 0.821 | likely_pathogenic | 0.8458 | pathogenic | -0.947 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| F/N | 0.9878 | likely_pathogenic | 0.9879 | pathogenic | -2.917 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| F/P | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -1.563 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| F/Q | 0.9896 | likely_pathogenic | 0.9898 | pathogenic | -2.751 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| F/R | 0.9887 | likely_pathogenic | 0.9882 | pathogenic | -2.025 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| F/S | 0.9671 | likely_pathogenic | 0.975 | pathogenic | -3.588 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | N | 0.463490021 | None | None | N |
| F/T | 0.9676 | likely_pathogenic | 0.9734 | pathogenic | -3.245 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| F/V | 0.5847 | likely_pathogenic | 0.6526 | pathogenic | -1.563 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.407312875 | None | None | N |
| F/W | 0.8038 | likely_pathogenic | 0.8104 | pathogenic | -0.35 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| F/Y | 0.5344 | ambiguous | 0.5546 | ambiguous | -0.726 | Destabilizing | 0.999 | D | 0.539 | neutral | N | 0.45986917 | 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.