Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8494 | 25705;25706;25707 | chr2:178717254;178717253;178717252 | chr2:179581981;179581980;179581979 |
| N2AB | 8177 | 24754;24755;24756 | chr2:178717254;178717253;178717252 | chr2:179581981;179581980;179581979 |
| N2A | 7250 | 21973;21974;21975 | chr2:178717254;178717253;178717252 | chr2:179581981;179581980;179581979 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/Q | rs201418615  |
0.205 | 0.98 | N | 0.308 | 0.126 | None | gnomAD-2.1.1 | 2.03323E-04 | None | None | None | None | N | None | 2.23141E-03 | 2.83E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 7.8E-06 | 0 |
| R/Q | rs201418615 |
0.205 | 0.98 | N | 0.308 | 0.126 | None | gnomAD-3.1.2 | 5.38921E-04 | None | None | None | None | N | None | 1.80932E-03 | 1.30959E-04 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| R/Q | rs201418615 |
0.205 | 0.98 | N | 0.308 | 0.126 | None | 1000 genomes | 7.98722E-04 | None | None | None | None | N | None | 3E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| R/Q | rs201418615 |
0.205 | 0.98 | N | 0.308 | 0.126 | None | gnomAD-4.0.0 | 1.13405E-04 | None | None | None | None | N | None | 1.94604E-03 | 6.66556E-05 | None | 0 | 0 | None | 0 | 0 | 2.20397E-05 | 2.19616E-05 | 8.00384E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.732 | likely_pathogenic | 0.6932 | pathogenic | 0.098 | Stabilizing | 0.866 | D | 0.341 | neutral | None | None | None | None | N |
| R/C | 0.4871 | ambiguous | 0.4704 | ambiguous | -0.006 | Destabilizing | 0.999 | D | 0.373 | neutral | None | None | None | None | N |
| R/D | 0.9017 | likely_pathogenic | 0.8866 | pathogenic | -0.181 | Destabilizing | 0.887 | D | 0.369 | neutral | None | None | None | None | N |
| R/E | 0.6625 | likely_pathogenic | 0.6314 | pathogenic | -0.125 | Destabilizing | 0.059 | N | 0.201 | neutral | None | None | None | None | N |
| R/F | 0.826 | likely_pathogenic | 0.8077 | pathogenic | -0.127 | Destabilizing | 0.993 | D | 0.351 | neutral | None | None | None | None | N |
| R/G | 0.5413 | ambiguous | 0.5457 | ambiguous | -0.086 | Destabilizing | 0.984 | D | 0.369 | neutral | N | 0.500408408 | None | None | N |
| R/H | 0.167 | likely_benign | 0.1719 | benign | -0.638 | Destabilizing | 0.993 | D | 0.3 | neutral | None | None | None | None | N |
| R/I | 0.5743 | likely_pathogenic | 0.5144 | ambiguous | 0.545 | Stabilizing | 0.993 | D | 0.366 | neutral | None | None | None | None | N |
| R/K | 0.1119 | likely_benign | 0.1147 | benign | 0.003 | Stabilizing | 0.01 | N | 0.193 | neutral | None | None | None | None | N |
| R/L | 0.5264 | ambiguous | 0.5022 | ambiguous | 0.545 | Stabilizing | 0.962 | D | 0.359 | neutral | N | 0.513972351 | None | None | N |
| R/M | 0.5441 | ambiguous | 0.5104 | ambiguous | 0.109 | Stabilizing | 0.993 | D | 0.319 | neutral | None | None | None | None | N |
| R/N | 0.8306 | likely_pathogenic | 0.8048 | pathogenic | 0.228 | Stabilizing | 0.969 | D | 0.305 | neutral | None | None | None | None | N |
| R/P | 0.9608 | likely_pathogenic | 0.9593 | pathogenic | 0.416 | Stabilizing | 0.998 | D | 0.361 | neutral | N | 0.500949882 | None | None | N |
| R/Q | 0.1624 | likely_benign | 0.1646 | benign | 0.146 | Stabilizing | 0.98 | D | 0.308 | neutral | N | 0.472218942 | None | None | N |
| R/S | 0.8041 | likely_pathogenic | 0.7792 | pathogenic | -0.021 | Destabilizing | 0.94 | D | 0.327 | neutral | None | None | None | None | N |
| R/T | 0.5617 | ambiguous | 0.5138 | ambiguous | 0.158 | Stabilizing | 0.969 | D | 0.32 | neutral | None | None | None | None | N |
| R/V | 0.6346 | likely_pathogenic | 0.5867 | pathogenic | 0.416 | Stabilizing | 0.905 | D | 0.385 | neutral | None | None | None | None | N |
| R/W | 0.3464 | ambiguous | 0.345 | ambiguous | -0.237 | Destabilizing | 0.999 | D | 0.447 | neutral | None | None | None | None | N |
| R/Y | 0.6897 | likely_pathogenic | 0.6737 | pathogenic | 0.172 | Stabilizing | 0.993 | D | 0.355 | neutral | 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.