Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16925 | 50998;50999;51000 | chr2:178611456;178611455;178611454 | chr2:179476183;179476182;179476181 |
| N2AB | 15284 | 46075;46076;46077 | chr2:178611456;178611455;178611454 | chr2:179476183;179476182;179476181 |
| N2A | 14357 | 43294;43295;43296 | chr2:178611456;178611455;178611454 | chr2:179476183;179476182;179476181 |
| N2B | 7860 | 23803;23804;23805 | chr2:178611456;178611455;178611454 | chr2:179476183;179476182;179476181 |
| Novex-1 | 7985 | 24178;24179;24180 | chr2:178611456;178611455;178611454 | chr2:179476183;179476182;179476181 |
| Novex-2 | 8052 | 24379;24380;24381 | chr2:178611456;178611455;178611454 | chr2:179476183;179476182;179476181 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs370067597  |
-2.574 | 0.78 | N | 0.725 | 0.225 | None | gnomAD-2.1.1 | 4.66E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.02403E-04 | 0 |
| V/A | rs370067597 |
-2.574 | 0.78 | N | 0.725 | 0.225 | None | gnomAD-3.1.2 | 8.55E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.91362E-04 | 0 | 0 |
| V/A | rs370067597 |
-2.574 | 0.78 | N | 0.725 | 0.225 | None | gnomAD-4.0.0 | 1.72371E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.21312E-04 | 0 | 2.72445E-04 |
| V/D | None | None | 0.984 | N | 0.851 | 0.446 | 0.82414934751 | gnomAD-4.0.0 | 6.84546E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99768E-07 | 0 | 0 |
| V/L | rs752224973 |
-0.84 | 0.64 | N | 0.54 | 0.187 | 0.420447328233 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| V/L | rs752224973 |
-0.84 | 0.64 | N | 0.54 | 0.187 | 0.420447328233 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/L | rs752224973 |
-0.84 | 0.64 | N | 0.54 | 0.187 | 0.420447328233 | gnomAD-4.0.0 | 1.36406E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.86548E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2874 | likely_benign | 0.4204 | ambiguous | -1.957 | Destabilizing | 0.78 | D | 0.725 | prob.delet. | N | 0.481446134 | None | None | N |
| V/C | 0.713 | likely_pathogenic | 0.8414 | pathogenic | -1.35 | Destabilizing | 0.999 | D | 0.79 | deleterious | None | None | None | None | N |
| V/D | 0.6944 | likely_pathogenic | 0.8192 | pathogenic | -2.805 | Highly Destabilizing | 0.984 | D | 0.851 | deleterious | N | 0.483300358 | None | None | N |
| V/E | 0.4084 | ambiguous | 0.5758 | pathogenic | -2.568 | Highly Destabilizing | 0.988 | D | 0.789 | deleterious | None | None | None | None | N |
| V/F | 0.2362 | likely_benign | 0.3427 | ambiguous | -1.113 | Destabilizing | 0.968 | D | 0.816 | deleterious | N | 0.477540559 | None | None | N |
| V/G | 0.408 | ambiguous | 0.5796 | pathogenic | -2.488 | Highly Destabilizing | 0.984 | D | 0.821 | deleterious | N | 0.478159185 | None | None | N |
| V/H | 0.6274 | likely_pathogenic | 0.7865 | pathogenic | -2.391 | Highly Destabilizing | 0.999 | D | 0.855 | deleterious | None | None | None | None | N |
| V/I | 0.0803 | likely_benign | 0.0849 | benign | -0.46 | Destabilizing | 0.011 | N | 0.211 | neutral | N | 0.468153923 | None | None | N |
| V/K | 0.3394 | likely_benign | 0.5134 | ambiguous | -1.541 | Destabilizing | 0.976 | D | 0.78 | deleterious | None | None | None | None | N |
| V/L | 0.2093 | likely_benign | 0.3033 | benign | -0.46 | Destabilizing | 0.64 | D | 0.54 | neutral | N | 0.462339878 | None | None | N |
| V/M | 0.1667 | likely_benign | 0.2175 | benign | -0.544 | Destabilizing | 0.976 | D | 0.765 | deleterious | None | None | None | None | N |
| V/N | 0.4557 | ambiguous | 0.6424 | pathogenic | -1.946 | Destabilizing | 0.988 | D | 0.861 | deleterious | None | None | None | None | N |
| V/P | 0.9595 | likely_pathogenic | 0.9765 | pathogenic | -0.935 | Destabilizing | 0.996 | D | 0.809 | deleterious | None | None | None | None | N |
| V/Q | 0.3259 | likely_benign | 0.49 | ambiguous | -1.74 | Destabilizing | 0.996 | D | 0.82 | deleterious | None | None | None | None | N |
| V/R | 0.3046 | likely_benign | 0.4541 | ambiguous | -1.465 | Destabilizing | 0.988 | D | 0.869 | deleterious | None | None | None | None | N |
| V/S | 0.3246 | likely_benign | 0.4876 | ambiguous | -2.478 | Highly Destabilizing | 0.851 | D | 0.794 | deleterious | None | None | None | None | N |
| V/T | 0.2154 | likely_benign | 0.3262 | benign | -2.109 | Highly Destabilizing | 0.132 | N | 0.512 | neutral | None | None | None | None | N |
| V/W | 0.8869 | likely_pathogenic | 0.9472 | pathogenic | -1.744 | Destabilizing | 0.999 | D | 0.833 | deleterious | None | None | None | None | N |
| V/Y | 0.6359 | likely_pathogenic | 0.7986 | pathogenic | -1.33 | Destabilizing | 0.996 | D | 0.82 | 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.