Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35193 | 105802;105803;105804 | chr2:178531038;178531037;178531036 | chr2:179395765;179395764;179395763 |
| N2AB | 33552 | 100879;100880;100881 | chr2:178531038;178531037;178531036 | chr2:179395765;179395764;179395763 |
| N2A | 32625 | 98098;98099;98100 | chr2:178531038;178531037;178531036 | chr2:179395765;179395764;179395763 |
| N2B | 26128 | 78607;78608;78609 | chr2:178531038;178531037;178531036 | chr2:179395765;179395764;179395763 |
| Novex-1 | 26253 | 78982;78983;78984 | chr2:178531038;178531037;178531036 | chr2:179395765;179395764;179395763 |
| Novex-2 | 26320 | 79183;79184;79185 | chr2:178531038;178531037;178531036 | chr2:179395765;179395764;179395763 |
| 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/D | rs1380574216  |
-0.311 | 0.884 | N | 0.387 | 0.123 | 0.270889551736 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.41849E-04 | None | 0 | None | 0 | 0 | 0 |
| A/D | rs1380574216 |
-0.311 | 0.884 | N | 0.387 | 0.123 | 0.270889551736 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92456E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/D | rs1380574216 |
-0.311 | 0.884 | N | 0.387 | 0.123 | 0.270889551736 | gnomAD-4.0.0 | 6.57237E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.92456E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | rs763944153 |
-0.25 | 0.012 | N | 0.113 | 0.131 | None | gnomAD-2.1.1 | 2.5E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4E-05 | 4.68E-05 | 0 |
| A/S | rs763944153 |
-0.25 | 0.012 | N | 0.113 | 0.131 | None | 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 |
| A/S | rs763944153 |
-0.25 | 0.012 | N | 0.113 | 0.131 | None | gnomAD-4.0.0 | 1.40908E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.56922E-05 | 0 | 2.15329E-05 | 0 | 2.84398E-05 |
| A/V | rs1380574216 |
-0.042 | 0.309 | N | 0.295 | 0.048 | 0.136095386433 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs1380574216 |
-0.042 | 0.309 | N | 0.295 | 0.048 | 0.136095386433 | gnomAD-4.0.0 | 1.5909E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77239E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6277 | likely_pathogenic | 0.6508 | pathogenic | -0.765 | Destabilizing | 0.996 | D | 0.323 | neutral | None | None | None | None | N |
| A/D | 0.1779 | likely_benign | 0.2216 | benign | -0.847 | Destabilizing | 0.884 | D | 0.387 | neutral | N | 0.495958941 | None | None | N |
| A/E | 0.1648 | likely_benign | 0.1914 | benign | -1.001 | Destabilizing | 0.742 | D | 0.348 | neutral | None | None | None | None | N |
| A/F | 0.2709 | likely_benign | 0.3207 | benign | -1.057 | Destabilizing | 0.91 | D | 0.393 | neutral | None | None | None | None | N |
| A/G | 0.1263 | likely_benign | 0.1402 | benign | -0.557 | Destabilizing | 0.521 | D | 0.293 | neutral | N | 0.484915228 | None | None | N |
| A/H | 0.404 | ambiguous | 0.4603 | ambiguous | -0.597 | Destabilizing | 0.996 | D | 0.36 | neutral | None | None | None | None | N |
| A/I | 0.2084 | likely_benign | 0.2224 | benign | -0.475 | Destabilizing | 0.009 | N | 0.206 | neutral | None | None | None | None | N |
| A/K | 0.3024 | likely_benign | 0.3589 | ambiguous | -0.89 | Destabilizing | 0.742 | D | 0.357 | neutral | None | None | None | None | N |
| A/L | 0.1485 | likely_benign | 0.1589 | benign | -0.475 | Destabilizing | 0.009 | N | 0.176 | neutral | None | None | None | None | N |
| A/M | 0.2072 | likely_benign | 0.2186 | benign | -0.392 | Destabilizing | 0.206 | N | 0.301 | neutral | None | None | None | None | N |
| A/N | 0.1995 | likely_benign | 0.2253 | benign | -0.507 | Destabilizing | 0.91 | D | 0.379 | neutral | None | None | None | None | N |
| A/P | 0.1298 | likely_benign | 0.1455 | benign | -0.443 | Destabilizing | 0.939 | D | 0.32 | neutral | N | 0.417458085 | None | None | N |
| A/Q | 0.2665 | likely_benign | 0.301 | benign | -0.828 | Destabilizing | 0.953 | D | 0.341 | neutral | None | None | None | None | N |
| A/R | 0.2704 | likely_benign | 0.318 | benign | -0.337 | Destabilizing | 0.91 | D | 0.32 | neutral | None | None | None | None | N |
| A/S | 0.0869 | likely_benign | 0.0921 | benign | -0.684 | Destabilizing | 0.012 | N | 0.113 | neutral | N | 0.44785835 | None | None | N |
| A/T | 0.0896 | likely_benign | 0.0918 | benign | -0.765 | Destabilizing | 0.007 | N | 0.247 | neutral | N | 0.445703479 | None | None | N |
| A/V | 0.1142 | likely_benign | 0.1189 | benign | -0.443 | Destabilizing | 0.309 | N | 0.295 | neutral | N | 0.436390562 | None | None | N |
| A/W | 0.6263 | likely_pathogenic | 0.7075 | pathogenic | -1.197 | Destabilizing | 0.996 | D | 0.44 | neutral | None | None | None | None | N |
| A/Y | 0.4016 | ambiguous | 0.4512 | ambiguous | -0.866 | Destabilizing | 0.953 | D | 0.392 | 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.