Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15107 | 45544;45545;45546 | chr2:178621505;178621504;178621503 | chr2:179486232;179486231;179486230 |
| N2AB | 13466 | 40621;40622;40623 | chr2:178621505;178621504;178621503 | chr2:179486232;179486231;179486230 |
| N2A | 12539 | 37840;37841;37842 | chr2:178621505;178621504;178621503 | chr2:179486232;179486231;179486230 |
| N2B | 6042 | 18349;18350;18351 | chr2:178621505;178621504;178621503 | chr2:179486232;179486231;179486230 |
| Novex-1 | 6167 | 18724;18725;18726 | chr2:178621505;178621504;178621503 | chr2:179486232;179486231;179486230 |
| Novex-2 | 6234 | 18925;18926;18927 | chr2:178621505;178621504;178621503 | chr2:179486232;179486231;179486230 |
| 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/P | rs1236004974  |
None | 0.966 | N | 0.362 | 0.337 | 0.26547132957 | gnomAD-4.0.0 | 1.59408E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8631E-06 | 0 | 0 |
| S/T | None | None | 0.051 | N | 0.217 | 0.12 | 0.134241683229 | gnomAD-4.0.0 | 1.59408E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8631E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0892 | likely_benign | 0.0858 | benign | -0.569 | Destabilizing | 0.051 | N | 0.139 | neutral | N | 0.476108724 | None | None | N |
| S/C | 0.1437 | likely_benign | 0.1489 | benign | -0.289 | Destabilizing | 0.997 | D | 0.373 | neutral | D | 0.603796898 | None | None | N |
| S/D | 0.582 | likely_pathogenic | 0.5198 | ambiguous | 0.594 | Stabilizing | 0.842 | D | 0.375 | neutral | None | None | None | None | N |
| S/E | 0.567 | likely_pathogenic | 0.5507 | ambiguous | 0.608 | Stabilizing | 0.842 | D | 0.387 | neutral | None | None | None | None | N |
| S/F | 0.2811 | likely_benign | 0.2249 | benign | -0.761 | Destabilizing | 0.966 | D | 0.423 | neutral | D | 0.573016627 | None | None | N |
| S/G | 0.1289 | likely_benign | 0.1265 | benign | -0.815 | Destabilizing | 0.842 | D | 0.392 | neutral | None | None | None | None | N |
| S/H | 0.4406 | ambiguous | 0.4207 | ambiguous | -1.14 | Destabilizing | 0.998 | D | 0.377 | neutral | None | None | None | None | N |
| S/I | 0.2142 | likely_benign | 0.1722 | benign | -0.019 | Destabilizing | 0.067 | N | 0.261 | neutral | None | None | None | None | N |
| S/K | 0.6996 | likely_pathogenic | 0.6767 | pathogenic | -0.205 | Destabilizing | 0.842 | D | 0.381 | neutral | None | None | None | None | N |
| S/L | 0.1392 | likely_benign | 0.1142 | benign | -0.019 | Destabilizing | 0.525 | D | 0.381 | neutral | None | None | None | None | N |
| S/M | 0.254 | likely_benign | 0.2416 | benign | -0.045 | Destabilizing | 0.974 | D | 0.37 | neutral | None | None | None | None | N |
| S/N | 0.2192 | likely_benign | 0.1971 | benign | -0.186 | Destabilizing | 0.842 | D | 0.423 | neutral | None | None | None | None | N |
| S/P | 0.8661 | likely_pathogenic | 0.7737 | pathogenic | -0.169 | Destabilizing | 0.966 | D | 0.362 | neutral | N | 0.497344833 | None | None | N |
| S/Q | 0.5059 | ambiguous | 0.5184 | ambiguous | -0.226 | Destabilizing | 0.974 | D | 0.411 | neutral | None | None | None | None | N |
| S/R | 0.6058 | likely_pathogenic | 0.5756 | pathogenic | -0.231 | Destabilizing | 0.949 | D | 0.367 | neutral | None | None | None | None | N |
| S/T | 0.0966 | likely_benign | 0.0886 | benign | -0.262 | Destabilizing | 0.051 | N | 0.217 | neutral | N | 0.496024861 | None | None | N |
| S/V | 0.1946 | likely_benign | 0.1725 | benign | -0.169 | Destabilizing | 0.525 | D | 0.38 | neutral | None | None | None | None | N |
| S/W | 0.5287 | ambiguous | 0.4632 | ambiguous | -0.765 | Destabilizing | 0.998 | D | 0.532 | neutral | None | None | None | None | N |
| S/Y | 0.2731 | likely_benign | 0.2298 | benign | -0.45 | Destabilizing | 0.989 | D | 0.403 | neutral | N | 0.521077807 | 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.