Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16210 | 48853;48854;48855 | chr2:178615317;178615316;178615315 | chr2:179480044;179480043;179480042 |
| N2AB | 14569 | 43930;43931;43932 | chr2:178615317;178615316;178615315 | chr2:179480044;179480043;179480042 |
| N2A | 13642 | 41149;41150;41151 | chr2:178615317;178615316;178615315 | chr2:179480044;179480043;179480042 |
| N2B | 7145 | 21658;21659;21660 | chr2:178615317;178615316;178615315 | chr2:179480044;179480043;179480042 |
| Novex-1 | 7270 | 22033;22034;22035 | chr2:178615317;178615316;178615315 | chr2:179480044;179480043;179480042 |
| Novex-2 | 7337 | 22234;22235;22236 | chr2:178615317;178615316;178615315 | chr2:179480044;179480043;179480042 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs751399759  |
-0.807 | 0.024 | N | 0.204 | 0.067 | 0.0401082797425 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.61E-05 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs751399759 |
-0.807 | 0.024 | N | 0.204 | 0.067 | 0.0401082797425 | gnomAD-4.0.0 | 1.59463E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78396E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3156 | likely_benign | 0.3159 | benign | -0.756 | Destabilizing | 0.628 | D | 0.346 | neutral | None | None | None | None | N |
| A/D | 0.2446 | likely_benign | 0.227 | benign | -0.64 | Destabilizing | 0.072 | N | 0.32 | neutral | None | None | None | None | N |
| A/E | 0.2026 | likely_benign | 0.1888 | benign | -0.742 | Destabilizing | 0.055 | N | 0.264 | neutral | N | 0.413323322 | None | None | N |
| A/F | 0.2141 | likely_benign | 0.2195 | benign | -0.862 | Destabilizing | 0.214 | N | 0.36 | neutral | None | None | None | None | N |
| A/G | 0.099 | likely_benign | 0.0974 | benign | -0.668 | Destabilizing | 0.024 | N | 0.199 | neutral | N | 0.447116075 | None | None | N |
| A/H | 0.2828 | likely_benign | 0.2843 | benign | -0.664 | Destabilizing | 0.864 | D | 0.301 | neutral | None | None | None | None | N |
| A/I | 0.1227 | likely_benign | 0.1294 | benign | -0.337 | Destabilizing | None | N | 0.186 | neutral | None | None | None | None | N |
| A/K | 0.2786 | likely_benign | 0.2805 | benign | -0.921 | Destabilizing | 0.072 | N | 0.272 | neutral | None | None | None | None | N |
| A/L | 0.0822 | likely_benign | 0.0846 | benign | -0.337 | Destabilizing | 0.007 | N | 0.267 | neutral | None | None | None | None | N |
| A/M | 0.1126 | likely_benign | 0.1176 | benign | -0.422 | Destabilizing | 0.007 | N | 0.189 | neutral | None | None | None | None | N |
| A/N | 0.1338 | likely_benign | 0.1402 | benign | -0.607 | Destabilizing | 0.356 | N | 0.362 | neutral | None | None | None | None | N |
| A/P | 0.0688 | likely_benign | 0.0676 | benign | -0.363 | Destabilizing | None | N | 0.141 | neutral | N | 0.334878196 | None | None | N |
| A/Q | 0.1801 | likely_benign | 0.1768 | benign | -0.829 | Destabilizing | 0.356 | N | 0.371 | neutral | None | None | None | None | N |
| A/R | 0.298 | likely_benign | 0.2796 | benign | -0.463 | Destabilizing | 0.356 | N | 0.385 | neutral | None | None | None | None | N |
| A/S | 0.0711 | likely_benign | 0.0707 | benign | -0.855 | Destabilizing | 0.024 | N | 0.254 | neutral | N | 0.421347305 | None | None | N |
| A/T | 0.0665 | likely_benign | 0.0663 | benign | -0.87 | Destabilizing | 0.024 | N | 0.204 | neutral | N | 0.383089342 | None | None | N |
| A/V | 0.08 | likely_benign | 0.0815 | benign | -0.363 | Destabilizing | None | N | 0.111 | neutral | N | 0.445417747 | None | None | N |
| A/W | 0.5205 | ambiguous | 0.5042 | ambiguous | -1.079 | Destabilizing | 0.864 | D | 0.361 | neutral | None | None | None | None | N |
| A/Y | 0.3155 | likely_benign | 0.3232 | benign | -0.715 | Destabilizing | 0.628 | D | 0.337 | 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.