Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20407 | 61444;61445;61446 | chr2:178590506;178590505;178590504 | chr2:179455233;179455232;179455231 |
| N2AB | 18766 | 56521;56522;56523 | chr2:178590506;178590505;178590504 | chr2:179455233;179455232;179455231 |
| N2A | 17839 | 53740;53741;53742 | chr2:178590506;178590505;178590504 | chr2:179455233;179455232;179455231 |
| N2B | 11342 | 34249;34250;34251 | chr2:178590506;178590505;178590504 | chr2:179455233;179455232;179455231 |
| Novex-1 | 11467 | 34624;34625;34626 | chr2:178590506;178590505;178590504 | chr2:179455233;179455232;179455231 |
| Novex-2 | 11534 | 34825;34826;34827 | chr2:178590506;178590505;178590504 | chr2:179455233;179455232;179455231 |
| 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 | rs761797946  |
-2.587 | 0.027 | D | 0.605 | 0.128 | 0.430923071578 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs761797946 |
-2.587 | 0.027 | D | 0.605 | 0.128 | 0.430923071578 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs761797946 |
-2.587 | 0.027 | D | 0.605 | 0.128 | 0.430923071578 | gnomAD-4.0.0 | 3.09988E-06 | None | None | None | None | N | None | 0 | 1.66834E-05 | None | 0 | 4.46508E-05 | None | 0 | 0 | 1.69579E-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 | 0.4777 | ambiguous | 0.4259 | ambiguous | -2.457 | Highly Destabilizing | 0.027 | N | 0.605 | neutral | D | 0.522943259 | None | None | N |
| V/C | 0.7767 | likely_pathogenic | 0.7699 | pathogenic | -1.998 | Destabilizing | 0.935 | D | 0.689 | prob.neutral | None | None | None | None | N |
| V/D | 0.8949 | likely_pathogenic | 0.8685 | pathogenic | -3.234 | Highly Destabilizing | 0.38 | N | 0.733 | prob.delet. | None | None | None | None | N |
| V/E | 0.7653 | likely_pathogenic | 0.7179 | pathogenic | -3.03 | Highly Destabilizing | 0.117 | N | 0.709 | prob.delet. | N | 0.515590425 | None | None | N |
| V/F | 0.2436 | likely_benign | 0.2062 | benign | -1.401 | Destabilizing | 0.38 | N | 0.746 | deleterious | None | None | None | None | N |
| V/G | 0.7532 | likely_pathogenic | 0.6977 | pathogenic | -2.941 | Highly Destabilizing | 0.117 | N | 0.731 | prob.delet. | N | 0.486510525 | None | None | N |
| V/H | 0.8051 | likely_pathogenic | 0.7816 | pathogenic | -2.516 | Highly Destabilizing | 0.935 | D | 0.712 | prob.delet. | None | None | None | None | N |
| V/I | 0.0739 | likely_benign | 0.073 | benign | -1.093 | Destabilizing | None | N | 0.238 | neutral | N | 0.420029535 | None | None | N |
| V/K | 0.8149 | likely_pathogenic | 0.7931 | pathogenic | -2.118 | Highly Destabilizing | 0.38 | N | 0.702 | prob.neutral | None | None | None | None | N |
| V/L | 0.2818 | likely_benign | 0.2589 | benign | -1.093 | Destabilizing | 0.009 | N | 0.527 | neutral | N | 0.46431903 | None | None | N |
| V/M | 0.2161 | likely_benign | 0.206 | benign | -1.244 | Destabilizing | 0.38 | N | 0.704 | prob.neutral | None | None | None | None | N |
| V/N | 0.7555 | likely_pathogenic | 0.7037 | pathogenic | -2.432 | Highly Destabilizing | 0.38 | N | 0.734 | prob.delet. | None | None | None | None | N |
| V/P | 0.9919 | likely_pathogenic | 0.9895 | pathogenic | -1.525 | Destabilizing | 0.555 | D | 0.712 | prob.delet. | None | None | None | None | N |
| V/Q | 0.7183 | likely_pathogenic | 0.6954 | pathogenic | -2.316 | Highly Destabilizing | 0.555 | D | 0.703 | prob.neutral | None | None | None | None | N |
| V/R | 0.7291 | likely_pathogenic | 0.7057 | pathogenic | -1.793 | Destabilizing | 0.555 | D | 0.733 | prob.delet. | None | None | None | None | N |
| V/S | 0.6035 | likely_pathogenic | 0.5499 | ambiguous | -2.975 | Highly Destabilizing | 0.007 | N | 0.652 | neutral | None | None | None | None | N |
| V/T | 0.3468 | ambiguous | 0.3254 | benign | -2.653 | Highly Destabilizing | 0.002 | N | 0.377 | neutral | None | None | None | None | N |
| V/W | 0.8559 | likely_pathogenic | 0.8373 | pathogenic | -1.88 | Destabilizing | 0.935 | D | 0.718 | prob.delet. | None | None | None | None | N |
| V/Y | 0.6673 | likely_pathogenic | 0.6191 | pathogenic | -1.602 | Destabilizing | 0.555 | D | 0.735 | prob.delet. | 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.