Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15782 | 47569;47570;47571 | chr2:178618007;178618006;178618005 | chr2:179482734;179482733;179482732 |
| N2AB | 14141 | 42646;42647;42648 | chr2:178618007;178618006;178618005 | chr2:179482734;179482733;179482732 |
| N2A | 13214 | 39865;39866;39867 | chr2:178618007;178618006;178618005 | chr2:179482734;179482733;179482732 |
| N2B | 6717 | 20374;20375;20376 | chr2:178618007;178618006;178618005 | chr2:179482734;179482733;179482732 |
| Novex-1 | 6842 | 20749;20750;20751 | chr2:178618007;178618006;178618005 | chr2:179482734;179482733;179482732 |
| Novex-2 | 6909 | 20950;20951;20952 | chr2:178618007;178618006;178618005 | chr2:179482734;179482733;179482732 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs749192459  |
-2.463 | 1.0 | D | 0.865 | 0.623 | 0.555198480781 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.57E-05 | 0 |
| P/S | rs749192459 |
-2.463 | 1.0 | D | 0.865 | 0.623 | 0.555198480781 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 6.58E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs749192459 |
-2.463 | 1.0 | D | 0.865 | 0.623 | 0.555198480781 | gnomAD-4.0.0 | 9.30304E-06 | None | None | None | None | N | None | 0 | 1.67101E-05 | None | 0 | 0 | None | 0 | 0 | 1.18734E-05 | 0 | 0 |
| P/T | rs749192459 |
None | 1.0 | D | 0.861 | 0.699 | 0.633965432156 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | rs749192459 |
None | 1.0 | D | 0.861 | 0.699 | 0.633965432156 | gnomAD-4.0.0 | 1.24041E-06 | None | None | None | None | N | None | 1.33672E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48103E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.766 | likely_pathogenic | 0.728 | pathogenic | -1.998 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.737979206 | None | None | N |
| P/C | 0.9755 | likely_pathogenic | 0.9657 | pathogenic | -1.247 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| P/D | 0.9968 | likely_pathogenic | 0.9962 | pathogenic | -2.351 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/E | 0.9931 | likely_pathogenic | 0.9923 | pathogenic | -2.258 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/F | 0.9988 | likely_pathogenic | 0.9984 | pathogenic | -1.365 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| P/G | 0.9713 | likely_pathogenic | 0.9668 | pathogenic | -2.416 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/H | 0.9926 | likely_pathogenic | 0.9911 | pathogenic | -2.126 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/I | 0.988 | likely_pathogenic | 0.9859 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/K | 0.9968 | likely_pathogenic | 0.9962 | pathogenic | -1.885 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| P/L | 0.9479 | likely_pathogenic | 0.9353 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.774166173 | None | None | N |
| P/M | 0.9894 | likely_pathogenic | 0.9869 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/N | 0.9967 | likely_pathogenic | 0.9958 | pathogenic | -1.797 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/Q | 0.99 | likely_pathogenic | 0.9883 | pathogenic | -1.844 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.774053694 | None | None | N |
| P/R | 0.9881 | likely_pathogenic | 0.9866 | pathogenic | -1.419 | Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.720796994 | None | None | N |
| P/S | 0.9464 | likely_pathogenic | 0.935 | pathogenic | -2.306 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.615472511 | None | None | N |
| P/T | 0.9311 | likely_pathogenic | 0.9201 | pathogenic | -2.103 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.7628382 | None | None | N |
| P/V | 0.9502 | likely_pathogenic | 0.9438 | pathogenic | -1.227 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| P/W | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -1.768 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/Y | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -1.463 | Destabilizing | 1.0 | D | 0.901 | deleterious | 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.