Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26309 | 79150;79151;79152 | chr2:178567207;178567206;178567205 | chr2:179431934;179431933;179431932 |
| N2AB | 24668 | 74227;74228;74229 | chr2:178567207;178567206;178567205 | chr2:179431934;179431933;179431932 |
| N2A | 23741 | 71446;71447;71448 | chr2:178567207;178567206;178567205 | chr2:179431934;179431933;179431932 |
| N2B | 17244 | 51955;51956;51957 | chr2:178567207;178567206;178567205 | chr2:179431934;179431933;179431932 |
| Novex-1 | 17369 | 52330;52331;52332 | chr2:178567207;178567206;178567205 | chr2:179431934;179431933;179431932 |
| Novex-2 | 17436 | 52531;52532;52533 | chr2:178567207;178567206;178567205 | chr2:179431934;179431933;179431932 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs1213795169  |
None | 0.873 | N | 0.467 | 0.314 | 0.464528537357 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/C | rs1213795169 |
None | 0.873 | N | 0.467 | 0.314 | 0.464528537357 | gnomAD-4.0.0 | 6.57436E-06 | None | None | None | None | N | None | 0 | 6.55394E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | rs113597171 |
None | 0.285 | N | 0.31 | 0.065 | 0.130388298395 | gnomAD-4.0.0 | 2.74063E-06 | None | None | None | None | N | None | 8.99982E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.6597E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0649 | likely_benign | 0.065 | benign | -0.559 | Destabilizing | 0.001 | N | 0.139 | neutral | N | 0.492855212 | None | None | N |
| S/C | 0.0727 | likely_benign | 0.0741 | benign | -0.472 | Destabilizing | 0.873 | D | 0.467 | neutral | N | 0.474032265 | None | None | N |
| S/D | 0.2513 | likely_benign | 0.2158 | benign | -0.509 | Destabilizing | 0.002 | N | 0.177 | neutral | None | None | None | None | N |
| S/E | 0.3089 | likely_benign | 0.2777 | benign | -0.45 | Destabilizing | 0.209 | N | 0.321 | neutral | None | None | None | None | N |
| S/F | 0.1206 | likely_benign | 0.1252 | benign | -0.566 | Destabilizing | 0.772 | D | 0.601 | neutral | N | 0.473778776 | None | None | N |
| S/G | 0.0554 | likely_benign | 0.0544 | benign | -0.877 | Destabilizing | 0.002 | N | 0.131 | neutral | None | None | None | None | N |
| S/H | 0.1537 | likely_benign | 0.1432 | benign | -1.392 | Destabilizing | 0.901 | D | 0.483 | neutral | None | None | None | None | N |
| S/I | 0.1099 | likely_benign | 0.1083 | benign | 0.192 | Stabilizing | 0.39 | N | 0.401 | neutral | None | None | None | None | N |
| S/K | 0.245 | likely_benign | 0.2218 | benign | -0.746 | Destabilizing | 0.345 | N | 0.324 | neutral | None | None | None | None | N |
| S/L | 0.057 | likely_benign | 0.0594 | benign | 0.192 | Stabilizing | 0.002 | N | 0.333 | neutral | None | None | None | None | N |
| S/M | 0.1106 | likely_benign | 0.112 | benign | 0.255 | Stabilizing | 0.818 | D | 0.485 | neutral | None | None | None | None | N |
| S/N | 0.0619 | likely_benign | 0.062 | benign | -0.913 | Destabilizing | 0.007 | N | 0.194 | neutral | None | None | None | None | N |
| S/P | 0.4719 | ambiguous | 0.4959 | ambiguous | -0.021 | Destabilizing | 0.662 | D | 0.489 | neutral | N | 0.473525286 | None | None | N |
| S/Q | 0.22 | likely_benign | 0.2039 | benign | -0.877 | Destabilizing | 0.722 | D | 0.43 | neutral | None | None | None | None | N |
| S/R | 0.2462 | likely_benign | 0.226 | benign | -0.813 | Destabilizing | 0.722 | D | 0.478 | neutral | None | None | None | None | N |
| S/T | 0.0793 | likely_benign | 0.081 | benign | -0.769 | Destabilizing | 0.285 | N | 0.31 | neutral | N | 0.415623793 | None | None | N |
| S/V | 0.1243 | likely_benign | 0.1211 | benign | -0.021 | Destabilizing | 0.209 | N | 0.34 | neutral | None | None | None | None | N |
| S/W | 0.2524 | likely_benign | 0.2397 | benign | -0.685 | Destabilizing | 0.991 | D | 0.529 | neutral | None | None | None | None | N |
| S/Y | 0.1061 | likely_benign | 0.1043 | benign | -0.355 | Destabilizing | 0.954 | D | 0.549 | neutral | N | 0.52038853 | 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.