Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25351 | 76276;76277;76278 | chr2:178570081;178570080;178570079 | chr2:179434808;179434807;179434806 |
| N2AB | 23710 | 71353;71354;71355 | chr2:178570081;178570080;178570079 | chr2:179434808;179434807;179434806 |
| N2A | 22783 | 68572;68573;68574 | chr2:178570081;178570080;178570079 | chr2:179434808;179434807;179434806 |
| N2B | 16286 | 49081;49082;49083 | chr2:178570081;178570080;178570079 | chr2:179434808;179434807;179434806 |
| Novex-1 | 16411 | 49456;49457;49458 | chr2:178570081;178570080;178570079 | chr2:179434808;179434807;179434806 |
| Novex-2 | 16478 | 49657;49658;49659 | chr2:178570081;178570080;178570079 | chr2:179434808;179434807;179434806 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs1195746912  |
None | 1.0 | N | 0.663 | 0.6 | 0.473222633396 | gnomAD-4.0.0 | 1.59205E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77778E-05 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | rs201839118 |
-1.094 | 1.0 | D | 0.723 | 0.643 | 0.820495712062 | gnomAD-2.1.1 | 4.65E-05 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.4E-05 | 0 |
| W/R | rs201839118 |
-1.094 | 1.0 | D | 0.723 | 0.643 | 0.820495712062 | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.17675E-04 | 0 | 0 |
| W/R | rs201839118 |
-1.094 | 1.0 | D | 0.723 | 0.643 | 0.820495712062 | gnomAD-4.0.0 | 1.28926E-04 | None | None | None | None | N | None | 1.33529E-05 | 0 | None | 3.37975E-05 | 0 | None | 0 | 0 | 1.62767E-04 | 0 | 2.24208E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9976 | likely_pathogenic | 0.9965 | pathogenic | -3.095 | Highly Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| W/C | 0.9988 | likely_pathogenic | 0.9984 | pathogenic | -1.332 | Destabilizing | 1.0 | D | 0.663 | neutral | N | 0.519730067 | None | None | N |
| W/D | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -1.993 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| W/E | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -1.926 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| W/F | 0.7422 | likely_pathogenic | 0.7716 | pathogenic | -1.92 | Destabilizing | 1.0 | D | 0.605 | neutral | None | None | None | None | N |
| W/G | 0.9902 | likely_pathogenic | 0.986 | pathogenic | -3.283 | Highly Destabilizing | 1.0 | D | 0.635 | neutral | D | 0.541846794 | None | None | N |
| W/H | 0.9954 | likely_pathogenic | 0.994 | pathogenic | -1.582 | Destabilizing | 1.0 | D | 0.654 | neutral | None | None | None | None | N |
| W/I | 0.9967 | likely_pathogenic | 0.9955 | pathogenic | -2.402 | Highly Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| W/K | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -1.614 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| W/L | 0.9892 | likely_pathogenic | 0.9844 | pathogenic | -2.402 | Highly Destabilizing | 1.0 | D | 0.635 | neutral | D | 0.528297988 | None | None | N |
| W/M | 0.9965 | likely_pathogenic | 0.9955 | pathogenic | -1.82 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| W/N | 0.9987 | likely_pathogenic | 0.9981 | pathogenic | -1.944 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| W/P | 0.998 | likely_pathogenic | 0.9969 | pathogenic | -2.651 | Highly Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -1.995 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| W/R | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -0.963 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | D | 0.541593304 | None | None | N |
| W/S | 0.9947 | likely_pathogenic | 0.9924 | pathogenic | -2.362 | Highly Destabilizing | 1.0 | D | 0.723 | prob.delet. | D | 0.525944585 | None | None | N |
| W/T | 0.9981 | likely_pathogenic | 0.9972 | pathogenic | -2.248 | Highly Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| W/V | 0.996 | likely_pathogenic | 0.9946 | pathogenic | -2.651 | Highly Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| W/Y | 0.9036 | likely_pathogenic | 0.8965 | pathogenic | -1.682 | Destabilizing | 1.0 | D | 0.561 | 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.