Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21290 | 64093;64094;64095 | chr2:178587343;178587342;178587341 | chr2:179452070;179452069;179452068 |
| N2AB | 19649 | 59170;59171;59172 | chr2:178587343;178587342;178587341 | chr2:179452070;179452069;179452068 |
| N2A | 18722 | 56389;56390;56391 | chr2:178587343;178587342;178587341 | chr2:179452070;179452069;179452068 |
| N2B | 12225 | 36898;36899;36900 | chr2:178587343;178587342;178587341 | chr2:179452070;179452069;179452068 |
| Novex-1 | 12350 | 37273;37274;37275 | chr2:178587343;178587342;178587341 | chr2:179452070;179452069;179452068 |
| Novex-2 | 12417 | 37474;37475;37476 | chr2:178587343;178587342;178587341 | chr2:179452070;179452069;179452068 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs986183406  |
-2.095 | 1.0 | N | 0.827 | 0.484 | 0.45553875121 | gnomAD-2.1.1 | 1.44E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.16E-05 | 0 |
| P/S | rs986183406 |
-2.095 | 1.0 | N | 0.827 | 0.484 | 0.45553875121 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.42E-05 | 0 | 0 |
| P/S | rs986183406 |
-2.095 | 1.0 | N | 0.827 | 0.484 | 0.45553875121 | gnomAD-4.0.0 | 8.06213E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.10235E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.6493 | likely_pathogenic | 0.7252 | pathogenic | -1.883 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.513197425 | None | None | N |
| P/C | 0.9566 | likely_pathogenic | 0.972 | pathogenic | -1.356 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/D | 0.9981 | likely_pathogenic | 0.9987 | pathogenic | -2.456 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/E | 0.9947 | likely_pathogenic | 0.9962 | pathogenic | -2.411 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/F | 0.9982 | likely_pathogenic | 0.9989 | pathogenic | -1.46 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/G | 0.9729 | likely_pathogenic | 0.9802 | pathogenic | -2.262 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| P/H | 0.9915 | likely_pathogenic | 0.9946 | pathogenic | -1.98 | Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.550255309 | None | None | N |
| P/I | 0.978 | likely_pathogenic | 0.9852 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/K | 0.9971 | likely_pathogenic | 0.998 | pathogenic | -1.645 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| P/L | 0.9214 | likely_pathogenic | 0.9461 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.88 | deleterious | D | 0.525603687 | None | None | N |
| P/M | 0.9824 | likely_pathogenic | 0.9887 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/N | 0.9968 | likely_pathogenic | 0.998 | pathogenic | -1.555 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/Q | 0.988 | likely_pathogenic | 0.992 | pathogenic | -1.688 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| P/R | 0.9895 | likely_pathogenic | 0.9928 | pathogenic | -1.158 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.523668358 | None | None | N |
| P/S | 0.9225 | likely_pathogenic | 0.9467 | pathogenic | -2.019 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.488750067 | None | None | N |
| P/T | 0.9058 | likely_pathogenic | 0.9335 | pathogenic | -1.866 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.513450915 | None | None | N |
| P/V | 0.9171 | likely_pathogenic | 0.9428 | pathogenic | -1.196 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/W | 0.9992 | likely_pathogenic | 0.9996 | pathogenic | -1.801 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/Y | 0.9984 | likely_pathogenic | 0.999 | pathogenic | -1.504 | Destabilizing | 1.0 | D | 0.873 | deleterious | 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.