Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33397 | 100414;100415;100416 | chr2:178536558;178536557;178536556 | chr2:179401285;179401284;179401283 |
| N2AB | 31756 | 95491;95492;95493 | chr2:178536558;178536557;178536556 | chr2:179401285;179401284;179401283 |
| N2A | 30829 | 92710;92711;92712 | chr2:178536558;178536557;178536556 | chr2:179401285;179401284;179401283 |
| N2B | 24332 | 73219;73220;73221 | chr2:178536558;178536557;178536556 | chr2:179401285;179401284;179401283 |
| Novex-1 | 24457 | 73594;73595;73596 | chr2:178536558;178536557;178536556 | chr2:179401285;179401284;179401283 |
| Novex-2 | 24524 | 73795;73796;73797 | chr2:178536558;178536557;178536556 | chr2:179401285;179401284;179401283 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 0.001 | N | 0.154 | 0.081 | 0.149567049428 | gnomAD-4.0.0 | 7.44605E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.44194E-07 | 0 | 0 |
| G/D | rs1356361274  |
None | 0.324 | N | 0.541 | 0.122 | 0.178374595973 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs1356361274 |
None | 0.324 | N | 0.541 | 0.122 | 0.178374595973 | gnomAD-4.0.0 | 1.33768E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.77444E-06 | 0 | 0 |
| G/S | None | None | 0.001 | N | 0.321 | 0.047 | 0.12205267543 | gnomAD-4.0.0 | 1.48799E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.88726E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1533 | likely_benign | 0.1137 | benign | -0.837 | Destabilizing | 0.001 | N | 0.154 | neutral | N | 0.511054184 | None | None | N |
| G/C | 0.2586 | likely_benign | 0.1948 | benign | -0.969 | Destabilizing | 0.928 | D | 0.615 | neutral | N | 0.488449536 | None | None | N |
| G/D | 0.3181 | likely_benign | 0.2739 | benign | -2.147 | Highly Destabilizing | 0.324 | N | 0.541 | neutral | N | 0.482752862 | None | None | N |
| G/E | 0.2174 | likely_benign | 0.1932 | benign | -2.129 | Highly Destabilizing | 0.241 | N | 0.546 | neutral | None | None | None | None | N |
| G/F | 0.6753 | likely_pathogenic | 0.5572 | ambiguous | -1.003 | Destabilizing | 0.69 | D | 0.659 | neutral | None | None | None | None | N |
| G/H | 0.5981 | likely_pathogenic | 0.4906 | ambiguous | -1.86 | Destabilizing | 0.944 | D | 0.569 | neutral | None | None | None | None | N |
| G/I | 0.3673 | ambiguous | 0.2681 | benign | -0.209 | Destabilizing | 0.527 | D | 0.609 | neutral | None | None | None | None | N |
| G/K | 0.5725 | likely_pathogenic | 0.5192 | ambiguous | -1.547 | Destabilizing | 0.241 | N | 0.544 | neutral | None | None | None | None | N |
| G/L | 0.4091 | ambiguous | 0.2735 | benign | -0.209 | Destabilizing | 0.002 | N | 0.501 | neutral | None | None | None | None | N |
| G/M | 0.513 | ambiguous | 0.3594 | ambiguous | -0.158 | Destabilizing | 0.69 | D | 0.626 | neutral | None | None | None | None | N |
| G/N | 0.3993 | ambiguous | 0.3018 | benign | -1.346 | Destabilizing | 0.241 | N | 0.536 | neutral | None | None | None | None | N |
| G/P | 0.9275 | likely_pathogenic | 0.897 | pathogenic | -0.377 | Destabilizing | 0.818 | D | 0.585 | neutral | None | None | None | None | N |
| G/Q | 0.3541 | ambiguous | 0.2893 | benign | -1.427 | Destabilizing | 0.024 | N | 0.465 | neutral | None | None | None | None | N |
| G/R | 0.4365 | ambiguous | 0.3957 | ambiguous | -1.351 | Destabilizing | 0.627 | D | 0.577 | neutral | N | 0.469505453 | None | None | N |
| G/S | 0.1193 | likely_benign | 0.0982 | benign | -1.515 | Destabilizing | 0.001 | N | 0.321 | neutral | N | 0.450504371 | None | None | N |
| G/T | 0.1983 | likely_benign | 0.1476 | benign | -1.429 | Destabilizing | 0.008 | N | 0.452 | neutral | None | None | None | None | N |
| G/V | 0.2553 | likely_benign | 0.1829 | benign | -0.377 | Destabilizing | 0.193 | N | 0.585 | neutral | N | 0.46736954 | None | None | N |
| G/W | 0.5872 | likely_pathogenic | 0.4935 | ambiguous | -1.615 | Destabilizing | 0.981 | D | 0.593 | neutral | None | None | None | None | N |
| G/Y | 0.598 | likely_pathogenic | 0.4746 | ambiguous | -1.142 | Destabilizing | 0.818 | D | 0.658 | 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.