Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28401 | 85426;85427;85428 | chr2:178560931;178560930;178560929 | chr2:179425658;179425657;179425656 |
| N2AB | 26760 | 80503;80504;80505 | chr2:178560931;178560930;178560929 | chr2:179425658;179425657;179425656 |
| N2A | 25833 | 77722;77723;77724 | chr2:178560931;178560930;178560929 | chr2:179425658;179425657;179425656 |
| N2B | 19336 | 58231;58232;58233 | chr2:178560931;178560930;178560929 | chr2:179425658;179425657;179425656 |
| Novex-1 | 19461 | 58606;58607;58608 | chr2:178560931;178560930;178560929 | chr2:179425658;179425657;179425656 |
| Novex-2 | 19528 | 58807;58808;58809 | chr2:178560931;178560930;178560929 | chr2:179425658;179425657;179425656 |
| 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/G | None | None | 0.285 | N | 0.234 | 0.175 | 0.326616659874 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| R/K | None | None | None | N | 0.105 | 0.091 | 0.0846915920261 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.2127 | likely_benign | 0.206 | benign | -0.044 | Destabilizing | 0.187 | N | 0.242 | neutral | None | None | None | None | N |
| R/C | 0.1807 | likely_benign | 0.1768 | benign | -0.101 | Destabilizing | 0.991 | D | 0.214 | neutral | None | None | None | None | N |
| R/D | 0.3765 | ambiguous | 0.3838 | ambiguous | -0.032 | Destabilizing | 0.561 | D | 0.281 | neutral | None | None | None | None | N |
| R/E | 0.218 | likely_benign | 0.2185 | benign | 0.038 | Stabilizing | 0.103 | N | 0.17 | neutral | None | None | None | None | N |
| R/F | 0.4192 | ambiguous | 0.4131 | ambiguous | -0.203 | Destabilizing | 0.818 | D | 0.313 | neutral | None | None | None | None | N |
| R/G | 0.1093 | likely_benign | 0.1081 | benign | -0.261 | Destabilizing | 0.285 | N | 0.234 | neutral | N | 0.3660264 | None | None | N |
| R/H | 0.1025 | likely_benign | 0.1028 | benign | -0.74 | Destabilizing | 0.901 | D | 0.218 | neutral | None | None | None | None | N |
| R/I | 0.2133 | likely_benign | 0.2043 | benign | 0.499 | Stabilizing | 0.326 | N | 0.36 | neutral | N | 0.487184742 | None | None | N |
| R/K | 0.0782 | likely_benign | 0.0767 | benign | -0.093 | Destabilizing | None | N | 0.105 | neutral | N | 0.368626775 | None | None | N |
| R/L | 0.1744 | likely_benign | 0.1682 | benign | 0.499 | Stabilizing | 0.038 | N | 0.251 | neutral | None | None | None | None | N |
| R/M | 0.1594 | likely_benign | 0.1504 | benign | 0.102 | Stabilizing | 0.047 | N | 0.203 | neutral | None | None | None | None | N |
| R/N | 0.2998 | likely_benign | 0.3045 | benign | 0.222 | Stabilizing | 0.345 | N | 0.181 | neutral | None | None | None | None | N |
| R/P | 0.4567 | ambiguous | 0.4737 | ambiguous | 0.339 | Stabilizing | 0.722 | D | 0.359 | neutral | None | None | None | None | N |
| R/Q | 0.0956 | likely_benign | 0.0941 | benign | 0.096 | Stabilizing | 0.017 | N | 0.189 | neutral | None | None | None | None | N |
| R/S | 0.2533 | likely_benign | 0.252 | benign | -0.181 | Destabilizing | 0.166 | N | 0.249 | neutral | N | 0.330777676 | None | None | N |
| R/T | 0.1137 | likely_benign | 0.1116 | benign | 0.029 | Stabilizing | 0.005 | N | 0.183 | neutral | N | 0.338015866 | None | None | N |
| R/V | 0.257 | likely_benign | 0.2479 | benign | 0.339 | Stabilizing | 0.209 | N | 0.278 | neutral | None | None | None | None | N |
| R/W | 0.1676 | likely_benign | 0.1652 | benign | -0.2 | Destabilizing | 0.991 | D | 0.223 | neutral | None | None | None | None | N |
| R/Y | 0.3066 | likely_benign | 0.299 | benign | 0.196 | Stabilizing | 0.901 | D | 0.327 | 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.