Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7015 | 21268;21269;21270 | chr2:178724332;178724331;178724330 | chr2:179589059;179589058;179589057 |
| N2AB | 6698 | 20317;20318;20319 | chr2:178724332;178724331;178724330 | chr2:179589059;179589058;179589057 |
| N2A | 5771 | 17536;17537;17538 | chr2:178724332;178724331;178724330 | chr2:179589059;179589058;179589057 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs779515185  |
-1.171 | None | N | 0.145 | 0.122 | 0.252162846088 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs779515185 |
-1.171 | None | N | 0.145 | 0.122 | 0.252162846088 | gnomAD-4.0.0 | 1.59182E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77393E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs72648960 |
-0.531 | 0.096 | N | 0.438 | 0.243 | None | gnomAD-2.1.1 | 1.59927E-02 | None | None | None | None | N | None | 1.61224E-03 | 1.52983E-03 | None | 1.08275E-02 | 1.22511E-01 | None | 2.66754E-02 | None | 2.33925E-02 | 2.96801E-03 | 1.48876E-02 |
| A/V | rs72648960 |
-0.531 | 0.096 | N | 0.438 | 0.243 | None | gnomAD-3.1.2 | 8.9011E-03 | None | None | None | None | N | None | 1.68895E-03 | 1.89989E-03 | 4.38597E-03 | 1.09447E-02 | 1.23357E-01 | None | 2.43121E-02 | 3.16456E-03 | 2.54389E-03 | 2.57155E-02 | 9.07354E-03 |
| A/V | rs72648960 |
-0.531 | 0.096 | N | 0.438 | 0.243 | None | 1000 genomes | 3.57428E-02 | None | None | None | None | N | None | 8E-04 | 5.8E-03 | None | None | 1.379E-01 | 8E-03 | None | None | None | 2.76E-02 | None |
| A/V | rs72648960 |
-0.531 | 0.096 | N | 0.438 | 0.243 | None | gnomAD-4.0.0 | 8.21613E-03 | None | None | None | None | N | None | 1.41311E-03 | 1.61747E-03 | None | 1.07131E-02 | 1.30621E-01 | None | 2.48266E-02 | 1.58573E-02 | 1.70053E-03 | 2.62349E-02 | 1.27598E-02 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5022 | ambiguous | 0.4526 | ambiguous | -0.869 | Destabilizing | 0.883 | D | 0.555 | neutral | None | None | None | None | N |
| A/D | 0.3056 | likely_benign | 0.3291 | benign | -0.839 | Destabilizing | 0.124 | N | 0.469 | neutral | None | None | None | None | N |
| A/E | 0.1968 | likely_benign | 0.2015 | benign | -0.915 | Destabilizing | 0.003 | N | 0.255 | neutral | N | 0.417771169 | None | None | N |
| A/F | 0.312 | likely_benign | 0.3052 | benign | -1.074 | Destabilizing | 0.667 | D | 0.551 | neutral | None | None | None | None | N |
| A/G | 0.1281 | likely_benign | 0.1213 | benign | -0.993 | Destabilizing | None | N | 0.126 | neutral | N | 0.484113591 | None | None | N |
| A/H | 0.406 | ambiguous | 0.3996 | ambiguous | -1.074 | Destabilizing | 0.859 | D | 0.551 | neutral | None | None | None | None | N |
| A/I | 0.2183 | likely_benign | 0.2075 | benign | -0.437 | Destabilizing | 0.331 | N | 0.571 | neutral | None | None | None | None | N |
| A/K | 0.2582 | likely_benign | 0.2514 | benign | -1.054 | Destabilizing | 0.22 | N | 0.497 | neutral | None | None | None | None | N |
| A/L | 0.1887 | likely_benign | 0.1846 | benign | -0.437 | Destabilizing | 0.124 | N | 0.499 | neutral | None | None | None | None | N |
| A/M | 0.1973 | likely_benign | 0.1727 | benign | -0.352 | Destabilizing | 0.667 | D | 0.549 | neutral | None | None | None | None | N |
| A/N | 0.2628 | likely_benign | 0.2556 | benign | -0.756 | Destabilizing | 0.22 | N | 0.507 | neutral | None | None | None | None | N |
| A/P | 0.5581 | ambiguous | 0.5703 | pathogenic | -0.517 | Destabilizing | 0.301 | N | 0.545 | neutral | N | 0.500104189 | None | None | N |
| A/Q | 0.2609 | likely_benign | 0.2541 | benign | -0.966 | Destabilizing | 0.22 | N | 0.57 | neutral | None | None | None | None | N |
| A/R | 0.1937 | likely_benign | 0.1977 | benign | -0.64 | Destabilizing | 0.22 | N | 0.544 | neutral | None | None | None | None | N |
| A/S | 0.0949 | likely_benign | 0.092 | benign | -1.087 | Destabilizing | 0.001 | N | 0.133 | neutral | N | 0.441744107 | None | None | N |
| A/T | 0.0772 | likely_benign | 0.0742 | benign | -1.071 | Destabilizing | None | N | 0.145 | neutral | N | 0.478571698 | None | None | N |
| A/V | 0.125 | likely_benign | 0.1215 | benign | -0.517 | Destabilizing | 0.096 | N | 0.438 | neutral | N | 0.483940233 | None | None | N |
| A/W | 0.6748 | likely_pathogenic | 0.6534 | pathogenic | -1.328 | Destabilizing | 0.958 | D | 0.581 | neutral | None | None | None | None | N |
| A/Y | 0.4441 | ambiguous | 0.4355 | ambiguous | -0.946 | Destabilizing | 0.667 | D | 0.549 | 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.