Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7122 | 21589;21590;21591 | chr2:178723895;178723894;178723893 | chr2:179588622;179588621;179588620 |
| N2AB | 6805 | 20638;20639;20640 | chr2:178723895;178723894;178723893 | chr2:179588622;179588621;179588620 |
| N2A | 5878 | 17857;17858;17859 | chr2:178723895;178723894;178723893 | chr2:179588622;179588621;179588620 |
| 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 | rs201394117  |
-0.126 | 0.999 | N | 0.647 | 0.421 | 0.440288351245 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| A/S | rs201394117 |
-0.126 | 0.999 | N | 0.647 | 0.421 | 0.440288351245 | gnomAD-4.0.0 | 1.36925E-06 | None | None | None | None | I | None | 0 | 0 | None | 3.83289E-05 | 0 | None | 0 | 0 | 8.99954E-07 | 0 | 0 |
| A/T | rs201394117 |
-0.192 | 1.0 | D | 0.697 | 0.483 | None | gnomAD-2.1.1 | 4.72627E-04 | None | None | None | None | I | None | 1.24039E-04 | 5.67E-05 | None | 0 | 1.02501E-04 | None | 3.28E-05 | None | 9.22287E-04 | 7.45308E-04 | 8.46501E-04 |
| A/T | rs201394117 |
-0.192 | 1.0 | D | 0.697 | 0.483 | None | gnomAD-3.1.2 | 3.944E-04 | None | None | None | None | I | None | 2.41E-05 | 1.31027E-04 | 0 | 0 | 1.92753E-04 | None | 7.53864E-04 | 0 | 7.05799E-04 | 0 | 0 |
| A/T | rs201394117 |
-0.192 | 1.0 | D | 0.697 | 0.483 | None | gnomAD-4.0.0 | 3.57742E-04 | None | None | None | None | I | None | 4.00011E-05 | 6.67067E-05 | None | 3.38272E-05 | 2.22955E-05 | None | 9.37734E-04 | 1.65453E-04 | 4.09611E-04 | 7.69535E-05 | 2.72226E-04 |
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 | 0.7199 | likely_pathogenic | 0.7373 | pathogenic | -0.944 | Destabilizing | 0.844 | D | 0.547 | neutral | None | None | None | None | I |
| A/D | 0.713 | likely_pathogenic | 0.6974 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | D | 0.537250979 | None | None | I |
| A/E | 0.6228 | likely_pathogenic | 0.6033 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | I |
| A/F | 0.3723 | ambiguous | 0.3341 | benign | -0.966 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| A/G | 0.3312 | likely_benign | 0.3077 | benign | -0.324 | Destabilizing | 0.998 | D | 0.648 | neutral | N | 0.512345868 | None | None | I |
| A/H | 0.7337 | likely_pathogenic | 0.7192 | pathogenic | -0.23 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| A/I | 0.4815 | ambiguous | 0.4367 | ambiguous | -0.503 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | I |
| A/K | 0.8554 | likely_pathogenic | 0.8447 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
| A/L | 0.3366 | likely_benign | 0.3163 | benign | -0.503 | Destabilizing | 0.997 | D | 0.623 | neutral | None | None | None | None | I |
| A/M | 0.4009 | ambiguous | 0.3746 | ambiguous | -0.665 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | I |
| A/N | 0.6525 | likely_pathogenic | 0.6449 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | I |
| A/P | 0.9305 | likely_pathogenic | 0.8861 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | D | 0.548607284 | None | None | I |
| A/Q | 0.6664 | likely_pathogenic | 0.6572 | pathogenic | -0.616 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| A/R | 0.7136 | likely_pathogenic | 0.6987 | pathogenic | -0.164 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | I |
| A/S | 0.1561 | likely_benign | 0.1578 | benign | -0.558 | Destabilizing | 0.999 | D | 0.647 | neutral | N | 0.512990978 | None | None | I |
| A/T | 0.2379 | likely_benign | 0.224 | benign | -0.631 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | D | 0.53017018 | None | None | I |
| A/V | 0.2113 | likely_benign | 0.1921 | benign | -0.419 | Destabilizing | 0.996 | D | 0.66 | neutral | N | 0.509585252 | None | None | I |
| A/W | 0.8406 | likely_pathogenic | 0.8113 | pathogenic | -1.044 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| A/Y | 0.6669 | likely_pathogenic | 0.6354 | pathogenic | -0.751 | Destabilizing | 1.0 | D | 0.746 | deleterious | 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.