Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8534 | 25825;25826;25827 | chr2:178717134;178717133;178717132 | chr2:179581861;179581860;179581859 |
| N2AB | 8217 | 24874;24875;24876 | chr2:178717134;178717133;178717132 | chr2:179581861;179581860;179581859 |
| N2A | 7290 | 22093;22094;22095 | chr2:178717134;178717133;178717132 | chr2:179581861;179581860;179581859 |
| 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/S | rs779163897  |
-0.154 | 0.85 | N | 0.405 | 0.326 | 0.352048277211 | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | I | None | 0 | 1.74135E-04 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| A/S | rs779163897 |
-0.154 | 0.85 | N | 0.405 | 0.326 | 0.352048277211 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | rs779163897 |
-0.154 | 0.85 | N | 0.405 | 0.326 | 0.352048277211 | gnomAD-4.0.0 | 1.73567E-05 | None | None | None | None | I | None | 0 | 1.16725E-04 | None | 0 | 0 | None | 0 | 0 | 1.78043E-05 | 0 | 0 |
| A/T | rs779163897 |
-0.223 | 0.982 | N | 0.385 | 0.354 | 0.383256108077 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66611E-04 |
| A/T | rs779163897 |
-0.223 | 0.982 | N | 0.385 | 0.354 | 0.383256108077 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs779163897 |
-0.223 | 0.982 | N | 0.385 | 0.354 | 0.383256108077 | gnomAD-4.0.0 | 2.29356E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.64636E-04 | 3.05217E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5423 | ambiguous | 0.5694 | pathogenic | -0.932 | Destabilizing | 0.999 | D | 0.445 | neutral | None | None | None | None | I |
| A/D | 0.5775 | likely_pathogenic | 0.6313 | pathogenic | -0.661 | Destabilizing | 0.997 | D | 0.612 | neutral | D | 0.55321564 | None | None | I |
| A/E | 0.4389 | ambiguous | 0.4937 | ambiguous | -0.807 | Destabilizing | 0.995 | D | 0.458 | neutral | None | None | None | None | I |
| A/F | 0.2912 | likely_benign | 0.3034 | benign | -0.95 | Destabilizing | 0.998 | D | 0.619 | neutral | None | None | None | None | I |
| A/G | 0.2279 | likely_benign | 0.2343 | benign | -0.331 | Destabilizing | 0.746 | D | 0.384 | neutral | N | 0.506750007 | None | None | I |
| A/H | 0.5256 | ambiguous | 0.562 | ambiguous | -0.238 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | I |
| A/I | 0.2086 | likely_benign | 0.2325 | benign | -0.478 | Destabilizing | 0.497 | N | 0.429 | neutral | None | None | None | None | I |
| A/K | 0.5451 | ambiguous | 0.5964 | pathogenic | -0.696 | Destabilizing | 0.998 | D | 0.462 | neutral | None | None | None | None | I |
| A/L | 0.2095 | likely_benign | 0.237 | benign | -0.478 | Destabilizing | 0.938 | D | 0.471 | neutral | None | None | None | None | I |
| A/M | 0.2423 | likely_benign | 0.2723 | benign | -0.675 | Destabilizing | 0.998 | D | 0.507 | neutral | None | None | None | None | I |
| A/N | 0.4618 | ambiguous | 0.5052 | ambiguous | -0.419 | Destabilizing | 0.98 | D | 0.617 | neutral | None | None | None | None | I |
| A/P | 0.729 | likely_pathogenic | 0.7681 | pathogenic | -0.399 | Destabilizing | 0.999 | D | 0.502 | neutral | D | 0.55321564 | None | None | I |
| A/Q | 0.4454 | ambiguous | 0.4872 | ambiguous | -0.681 | Destabilizing | 0.999 | D | 0.5 | neutral | None | None | None | None | I |
| A/R | 0.4388 | ambiguous | 0.4761 | ambiguous | -0.218 | Destabilizing | 0.998 | D | 0.503 | neutral | None | None | None | None | I |
| A/S | 0.1185 | likely_benign | 0.1231 | benign | -0.597 | Destabilizing | 0.85 | D | 0.405 | neutral | N | 0.502293009 | None | None | I |
| A/T | 0.1088 | likely_benign | 0.1176 | benign | -0.671 | Destabilizing | 0.982 | D | 0.385 | neutral | N | 0.520459716 | None | None | I |
| A/V | 0.0949 | likely_benign | 0.1033 | benign | -0.399 | Destabilizing | 0.027 | N | 0.275 | neutral | N | 0.469181424 | None | None | I |
| A/W | 0.7414 | likely_pathogenic | 0.7681 | pathogenic | -1.043 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
| A/Y | 0.5057 | ambiguous | 0.5403 | ambiguous | -0.745 | Destabilizing | 0.999 | D | 0.617 | neutral | None | None | None | None | I |
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.