Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9731 | 29416;29417;29418 | chr2:178706683;178706682;178706681 | chr2:179571410;179571409;179571408 |
| N2AB | 9414 | 28465;28466;28467 | chr2:178706683;178706682;178706681 | chr2:179571410;179571409;179571408 |
| N2A | 8487 | 25684;25685;25686 | chr2:178706683;178706682;178706681 | chr2:179571410;179571409;179571408 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs1226902114  |
-2.011 | 1.0 | None | 0.884 | 0.92 | 0.940290408551 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11309E-04 | None | 0 | None | 0 | 0 | 0 |
| W/R | rs1226902114 |
-2.011 | 1.0 | None | 0.884 | 0.92 | 0.940290408551 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.9253E-04 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | rs1226902114 |
-2.011 | 1.0 | None | 0.884 | 0.92 | 0.940290408551 | gnomAD-4.0.0 | 3.18342E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.8826E-05 | 0 | 2.85915E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9995 | likely_pathogenic | 0.9987 | pathogenic | -3.063 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/C | 0.9997 | likely_pathogenic | 0.9993 | pathogenic | -1.958 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9997 | pathogenic | -3.495 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -3.374 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| W/F | 0.8461 | likely_pathogenic | 0.7927 | pathogenic | -1.934 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| W/G | 0.9957 | likely_pathogenic | 0.9913 | pathogenic | -3.312 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| W/H | 0.9995 | likely_pathogenic | 0.9989 | pathogenic | -2.347 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| W/I | 0.9947 | likely_pathogenic | 0.9879 | pathogenic | -2.114 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -2.762 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| W/L | 0.9903 | likely_pathogenic | 0.9769 | pathogenic | -2.114 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| W/M | 0.9975 | likely_pathogenic | 0.9941 | pathogenic | -1.637 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -3.532 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| W/P | 0.9999 | likely_pathogenic | 0.9997 | pathogenic | -2.461 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.312 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| W/R | 0.9999 | likely_pathogenic | 0.9997 | pathogenic | -2.572 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| W/S | 0.9996 | likely_pathogenic | 0.9988 | pathogenic | -3.656 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| W/T | 0.9996 | likely_pathogenic | 0.999 | pathogenic | -3.46 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| W/V | 0.9972 | likely_pathogenic | 0.9923 | pathogenic | -2.461 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| W/Y | 0.9756 | likely_pathogenic | 0.955 | pathogenic | -1.819 | Destabilizing | 1.0 | D | 0.81 | 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.