Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2299 | 7120;7121;7122 | chr2:178774369;178774368;178774367 | chr2:179639096;179639095;179639094 |
| N2AB | 2299 | 7120;7121;7122 | chr2:178774369;178774368;178774367 | chr2:179639096;179639095;179639094 |
| N2A | 2299 | 7120;7121;7122 | chr2:178774369;178774368;178774367 | chr2:179639096;179639095;179639094 |
| N2B | 2253 | 6982;6983;6984 | chr2:178774369;178774368;178774367 | chr2:179639096;179639095;179639094 |
| Novex-1 | 2253 | 6982;6983;6984 | chr2:178774369;178774368;178774367 | chr2:179639096;179639095;179639094 |
| Novex-2 | 2253 | 6982;6983;6984 | chr2:178774369;178774368;178774367 | chr2:179639096;179639095;179639094 |
| Novex-3 | 2299 | 7120;7121;7122 | chr2:178774369;178774368;178774367 | chr2:179639096;179639095;179639094 |
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 | rs145585333  |
-1.943 | 1.0 | D | 0.868 | 0.938 | 0.927908074176 | gnomAD-2.1.1 | 1.77E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.88E-05 | 0 |
| W/R | rs145585333 |
-1.943 | 1.0 | D | 0.868 | 0.938 | 0.927908074176 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| W/R | rs145585333 |
-1.943 | 1.0 | D | 0.868 | 0.938 | 0.927908074176 | gnomAD-4.0.0 | 3.47001E-05 | None | None | None | None | N | None | 1.33551E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.6612E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9956 | likely_pathogenic | 0.9946 | pathogenic | -2.119 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| W/C | 0.9974 | likely_pathogenic | 0.997 | pathogenic | -0.68 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.694005307 | None | None | N |
| W/D | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.848 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/E | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.708 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| W/F | 0.6189 | likely_pathogenic | 0.5981 | pathogenic | -1.274 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| W/G | 0.9873 | likely_pathogenic | 0.9853 | pathogenic | -2.375 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.693998279 | None | None | N |
| W/H | 0.9978 | likely_pathogenic | 0.9975 | pathogenic | -1.986 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| W/I | 0.9658 | likely_pathogenic | 0.9601 | pathogenic | -1.169 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.782 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| W/L | 0.9418 | likely_pathogenic | 0.9332 | pathogenic | -1.169 | Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.693998279 | None | None | N |
| W/M | 0.988 | likely_pathogenic | 0.986 | pathogenic | -0.666 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| W/N | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -2.563 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| W/P | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -1.512 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.258 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| W/R | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.994 | Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.694005307 | None | None | N |
| W/S | 0.9965 | likely_pathogenic | 0.9958 | pathogenic | -2.572 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.694005307 | None | None | N |
| W/T | 0.996 | likely_pathogenic | 0.9952 | pathogenic | -2.345 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| W/V | 0.976 | likely_pathogenic | 0.9724 | pathogenic | -1.512 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| W/Y | 0.8936 | likely_pathogenic | 0.8817 | pathogenic | -1.102 | Destabilizing | 1.0 | D | 0.773 | 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.