Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23084 | 69475;69476;69477 | chr2:178577085;178577084;178577083 | chr2:179441812;179441811;179441810 |
| N2AB | 21443 | 64552;64553;64554 | chr2:178577085;178577084;178577083 | chr2:179441812;179441811;179441810 |
| N2A | 20516 | 61771;61772;61773 | chr2:178577085;178577084;178577083 | chr2:179441812;179441811;179441810 |
| N2B | 14019 | 42280;42281;42282 | chr2:178577085;178577084;178577083 | chr2:179441812;179441811;179441810 |
| Novex-1 | 14144 | 42655;42656;42657 | chr2:178577085;178577084;178577083 | chr2:179441812;179441811;179441810 |
| Novex-2 | 14211 | 42856;42857;42858 | chr2:178577085;178577084;178577083 | chr2:179441812;179441811;179441810 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/Q | rs200191748  |
-0.118 | 0.994 | N | 0.415 | 0.279 | None | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | N | None | 2.06748E-04 | 0 | None | 0 | 5.15E-05 | None | 0 | None | 4E-05 | 1.57E-05 | 0 |
| R/Q | rs200191748 |
-0.118 | 0.994 | N | 0.415 | 0.279 | None | gnomAD-3.1.2 | 6.58E-05 | None | None | None | None | N | None | 1.45012E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| R/Q | rs200191748 |
-0.118 | 0.994 | N | 0.415 | 0.279 | None | gnomAD-4.0.0 | 2.60362E-05 | None | None | None | None | N | None | 1.20285E-04 | 0 | None | 0 | 4.46568E-05 | None | 0 | 0 | 2.45854E-05 | 0 | 3.20297E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9923 | likely_pathogenic | 0.9909 | pathogenic | -0.251 | Destabilizing | 0.845 | D | 0.443 | neutral | None | None | None | None | N |
| R/C | 0.9032 | likely_pathogenic | 0.8742 | pathogenic | -0.347 | Destabilizing | 0.999 | D | 0.649 | neutral | None | None | None | None | N |
| R/D | 0.9973 | likely_pathogenic | 0.9965 | pathogenic | -0.012 | Destabilizing | 0.975 | D | 0.486 | neutral | None | None | None | None | N |
| R/E | 0.9858 | likely_pathogenic | 0.9827 | pathogenic | 0.07 | Stabilizing | 0.845 | D | 0.388 | neutral | None | None | None | None | N |
| R/F | 0.9926 | likely_pathogenic | 0.9905 | pathogenic | -0.366 | Destabilizing | 0.996 | D | 0.583 | neutral | None | None | None | None | N |
| R/G | 0.984 | likely_pathogenic | 0.9804 | pathogenic | -0.484 | Destabilizing | 0.954 | D | 0.399 | neutral | N | 0.458737669 | None | None | N |
| R/H | 0.6258 | likely_pathogenic | 0.5146 | ambiguous | -0.908 | Destabilizing | 0.987 | D | 0.437 | neutral | None | None | None | None | N |
| R/I | 0.9915 | likely_pathogenic | 0.9892 | pathogenic | 0.339 | Stabilizing | 0.987 | D | 0.59 | neutral | None | None | None | None | N |
| R/K | 0.836 | likely_pathogenic | 0.7311 | pathogenic | -0.312 | Destabilizing | 0.033 | N | 0.298 | neutral | None | None | None | None | N |
| R/L | 0.9622 | likely_pathogenic | 0.9538 | pathogenic | 0.339 | Stabilizing | 0.954 | D | 0.399 | neutral | N | 0.499558216 | None | None | N |
| R/M | 0.9922 | likely_pathogenic | 0.9879 | pathogenic | -0.057 | Destabilizing | 0.999 | D | 0.447 | neutral | None | None | None | None | N |
| R/N | 0.9932 | likely_pathogenic | 0.9905 | pathogenic | 0.021 | Stabilizing | 0.975 | D | 0.407 | neutral | None | None | None | None | N |
| R/P | 0.9962 | likely_pathogenic | 0.9964 | pathogenic | 0.164 | Stabilizing | 0.993 | D | 0.501 | neutral | N | 0.471805949 | None | None | N |
| R/Q | 0.8341 | likely_pathogenic | 0.7865 | pathogenic | -0.113 | Destabilizing | 0.994 | D | 0.415 | neutral | N | 0.48346497 | None | None | N |
| R/S | 0.9905 | likely_pathogenic | 0.9887 | pathogenic | -0.484 | Destabilizing | 0.916 | D | 0.43 | neutral | None | None | None | None | N |
| R/T | 0.9925 | likely_pathogenic | 0.9904 | pathogenic | -0.25 | Destabilizing | 0.975 | D | 0.434 | neutral | None | None | None | None | N |
| R/V | 0.9904 | likely_pathogenic | 0.988 | pathogenic | 0.164 | Stabilizing | 0.975 | D | 0.579 | neutral | None | None | None | None | N |
| R/W | 0.9063 | likely_pathogenic | 0.8844 | pathogenic | -0.286 | Destabilizing | 0.999 | D | 0.675 | prob.neutral | None | None | None | None | N |
| R/Y | 0.9734 | likely_pathogenic | 0.9623 | pathogenic | 0.089 | Stabilizing | 0.996 | D | 0.511 | 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.