Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32121 | 96586;96587;96588 | chr2:178543612;178543611;178543610 | chr2:179408339;179408338;179408337 |
| N2AB | 30480 | 91663;91664;91665 | chr2:178543612;178543611;178543610 | chr2:179408339;179408338;179408337 |
| N2A | 29553 | 88882;88883;88884 | chr2:178543612;178543611;178543610 | chr2:179408339;179408338;179408337 |
| N2B | 23056 | 69391;69392;69393 | chr2:178543612;178543611;178543610 | chr2:179408339;179408338;179408337 |
| Novex-1 | 23181 | 69766;69767;69768 | chr2:178543612;178543611;178543610 | chr2:179408339;179408338;179408337 |
| Novex-2 | 23248 | 69967;69968;69969 | chr2:178543612;178543611;178543610 | chr2:179408339;179408338;179408337 |
| 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 | rs1258025777  |
-1.25 | 1.0 | N | 0.797 | 0.489 | 0.53046153047 | gnomAD-2.1.1 | 4.16E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.64E-05 | None | 0 | None | 0 | 0 | 0 |
| S/C | rs1258025777 |
-1.25 | 1.0 | N | 0.797 | 0.489 | 0.53046153047 | gnomAD-4.0.0 | 1.61639E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77886E-05 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | None | None | 1.0 | N | 0.867 | 0.494 | 0.679310148475 | gnomAD-4.0.0 | 1.61639E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43406E-05 | 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 | 0.0976 | likely_benign | 0.1005 | benign | -0.925 | Destabilizing | 0.997 | D | 0.463 | neutral | N | 0.480418729 | None | None | N |
| S/C | 0.1115 | likely_benign | 0.1092 | benign | -1.102 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.486067496 | None | None | N |
| S/D | 0.7409 | likely_pathogenic | 0.726 | pathogenic | -1.426 | Destabilizing | 1.0 | D | 0.49 | neutral | None | None | None | None | N |
| S/E | 0.8016 | likely_pathogenic | 0.8167 | pathogenic | -1.376 | Destabilizing | 1.0 | D | 0.479 | neutral | None | None | None | None | N |
| S/F | 0.2273 | likely_benign | 0.2148 | benign | -1.231 | Destabilizing | 1.0 | D | 0.867 | deleterious | N | 0.497170312 | None | None | N |
| S/G | 0.1444 | likely_benign | 0.1573 | benign | -1.159 | Destabilizing | 1.0 | D | 0.471 | neutral | None | None | None | None | N |
| S/H | 0.3973 | ambiguous | 0.406 | ambiguous | -1.556 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| S/I | 0.3532 | ambiguous | 0.3813 | ambiguous | -0.391 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| S/K | 0.9003 | likely_pathogenic | 0.9139 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.482 | neutral | None | None | None | None | N |
| S/L | 0.1786 | likely_benign | 0.1962 | benign | -0.391 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| S/M | 0.2164 | likely_benign | 0.2431 | benign | -0.217 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| S/N | 0.2728 | likely_benign | 0.2865 | benign | -1.021 | Destabilizing | 0.999 | D | 0.497 | neutral | None | None | None | None | N |
| S/P | 0.991 | likely_pathogenic | 0.9922 | pathogenic | -0.539 | Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.531403812 | None | None | N |
| S/Q | 0.6808 | likely_pathogenic | 0.7148 | pathogenic | -1.225 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| S/R | 0.8413 | likely_pathogenic | 0.8478 | pathogenic | -0.574 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| S/T | 0.0991 | likely_benign | 0.1072 | benign | -0.895 | Destabilizing | 0.988 | D | 0.463 | neutral | N | 0.517447013 | None | None | N |
| S/V | 0.3093 | likely_benign | 0.3282 | benign | -0.539 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| S/W | 0.4824 | ambiguous | 0.4479 | ambiguous | -1.246 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| S/Y | 0.2465 | likely_benign | 0.2285 | benign | -0.899 | Destabilizing | 1.0 | D | 0.875 | deleterious | N | 0.492535503 | 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.