Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27161 | 81706;81707;81708 | chr2:178564651;178564650;178564649 | chr2:179429378;179429377;179429376 |
| N2AB | 25520 | 76783;76784;76785 | chr2:178564651;178564650;178564649 | chr2:179429378;179429377;179429376 |
| N2A | 24593 | 74002;74003;74004 | chr2:178564651;178564650;178564649 | chr2:179429378;179429377;179429376 |
| N2B | 18096 | 54511;54512;54513 | chr2:178564651;178564650;178564649 | chr2:179429378;179429377;179429376 |
| Novex-1 | 18221 | 54886;54887;54888 | chr2:178564651;178564650;178564649 | chr2:179429378;179429377;179429376 |
| Novex-2 | 18288 | 55087;55088;55089 | chr2:178564651;178564650;178564649 | chr2:179429378;179429377;179429376 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs761391019  |
-1.819 | 0.006 | N | 0.389 | 0.136 | 0.337135696972 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/A | rs761391019 |
-1.819 | 0.006 | N | 0.389 | 0.136 | 0.337135696972 | gnomAD-4.0.0 | 6.15888E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 9.27558E-05 | 1.657E-05 |
| V/E | rs761391019 |
-1.846 | 0.868 | N | 0.696 | 0.201 | 0.660217342666 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.12158E-04 | None | 0 | None | 0 | 0 | 0 |
| V/E | rs761391019 |
-1.846 | 0.868 | N | 0.696 | 0.201 | 0.660217342666 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93274E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/E | rs761391019 |
-1.846 | 0.868 | N | 0.696 | 0.201 | 0.660217342666 | gnomAD-4.0.0 | 4.33857E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.34036E-04 | None | 0 | 0 | 0 | 0 | 1.60143E-05 |
| V/L | None | None | 0.006 | N | 0.313 | 0.042 | 0.191931220699 | gnomAD-4.0.0 | 1.59191E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85892E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1114 | likely_benign | 0.1038 | benign | -1.457 | Destabilizing | 0.006 | N | 0.389 | neutral | N | 0.416082366 | None | None | N |
| V/C | 0.5826 | likely_pathogenic | 0.5609 | ambiguous | -0.979 | Destabilizing | 0.995 | D | 0.666 | prob.neutral | None | None | None | None | N |
| V/D | 0.3676 | ambiguous | 0.3172 | benign | -0.905 | Destabilizing | 0.897 | D | 0.779 | deleterious | None | None | None | None | N |
| V/E | 0.335 | likely_benign | 0.2877 | benign | -0.906 | Destabilizing | 0.868 | D | 0.696 | prob.delet. | N | 0.470935571 | None | None | N |
| V/F | 0.2035 | likely_benign | 0.1852 | benign | -1.122 | Destabilizing | 0.897 | D | 0.756 | deleterious | None | None | None | None | N |
| V/G | 0.162 | likely_benign | 0.1514 | benign | -1.769 | Destabilizing | 0.483 | N | 0.741 | deleterious | N | 0.50716573 | None | None | N |
| V/H | 0.5458 | ambiguous | 0.5011 | ambiguous | -1.179 | Destabilizing | 0.995 | D | 0.777 | deleterious | None | None | None | None | N |
| V/I | 0.0767 | likely_benign | 0.0744 | benign | -0.707 | Destabilizing | 0.008 | N | 0.24 | neutral | None | None | None | None | N |
| V/K | 0.4131 | ambiguous | 0.374 | ambiguous | -1.043 | Destabilizing | 0.897 | D | 0.697 | prob.delet. | None | None | None | None | N |
| V/L | 0.1687 | likely_benign | 0.158 | benign | -0.707 | Destabilizing | 0.006 | N | 0.313 | neutral | N | 0.438631152 | None | None | N |
| V/M | 0.1605 | likely_benign | 0.1471 | benign | -0.587 | Destabilizing | 0.868 | D | 0.628 | neutral | N | 0.496218018 | None | None | N |
| V/N | 0.1948 | likely_benign | 0.1726 | benign | -0.831 | Destabilizing | 0.897 | D | 0.785 | deleterious | None | None | None | None | N |
| V/P | 0.1532 | likely_benign | 0.1512 | benign | -0.921 | Destabilizing | 0.946 | D | 0.724 | deleterious | None | None | None | None | N |
| V/Q | 0.3324 | likely_benign | 0.3099 | benign | -1.0 | Destabilizing | 0.946 | D | 0.706 | prob.delet. | None | None | None | None | N |
| V/R | 0.3922 | ambiguous | 0.3632 | ambiguous | -0.532 | Destabilizing | 0.897 | D | 0.784 | deleterious | None | None | None | None | N |
| V/S | 0.1446 | likely_benign | 0.1291 | benign | -1.42 | Destabilizing | 0.553 | D | 0.68 | prob.neutral | None | None | None | None | N |
| V/T | 0.1349 | likely_benign | 0.1246 | benign | -1.305 | Destabilizing | 0.032 | N | 0.491 | neutral | None | None | None | None | N |
| V/W | 0.8153 | likely_pathogenic | 0.786 | pathogenic | -1.247 | Destabilizing | 0.995 | D | 0.783 | deleterious | None | None | None | None | N |
| V/Y | 0.4993 | ambiguous | 0.4649 | ambiguous | -0.963 | Destabilizing | 0.982 | D | 0.721 | deleterious | 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.