Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21136 | 63631;63632;63633 | chr2:178588001;178588000;178587999 | chr2:179452728;179452727;179452726 |
| N2AB | 19495 | 58708;58709;58710 | chr2:178588001;178588000;178587999 | chr2:179452728;179452727;179452726 |
| N2A | 18568 | 55927;55928;55929 | chr2:178588001;178588000;178587999 | chr2:179452728;179452727;179452726 |
| N2B | 12071 | 36436;36437;36438 | chr2:178588001;178588000;178587999 | chr2:179452728;179452727;179452726 |
| Novex-1 | 12196 | 36811;36812;36813 | chr2:178588001;178588000;178587999 | chr2:179452728;179452727;179452726 |
| Novex-2 | 12263 | 37012;37013;37014 | chr2:178588001;178588000;178587999 | chr2:179452728;179452727;179452726 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs1047829961  |
None | 0.014 | N | 0.238 | 0.07 | 0.124217242631 | gnomAD-4.0.0 | 6.8466E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99794E-07 | 0 | 0 |
| D/G | rs773075736 |
-1.083 | 0.822 | D | 0.519 | 0.288 | 0.233785782151 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| D/G | rs773075736 |
-1.083 | 0.822 | D | 0.519 | 0.288 | 0.233785782151 | gnomAD-4.0.0 | 4.78097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.58458E-06 | 0 | 0 |
| D/N | rs762901628 |
-1.26 | 0.942 | N | 0.511 | 0.22 | 0.226586394389 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 0 | 0 |
| D/N | rs762901628 |
-1.26 | 0.942 | N | 0.511 | 0.22 | 0.226586394389 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 0 | 0 | 0 |
| D/N | rs762901628 |
-1.26 | 0.942 | N | 0.511 | 0.22 | 0.226586394389 | gnomAD-4.0.0 | 1.24021E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.56372E-05 | 0 | 8.47929E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.121 | likely_benign | 0.1099 | benign | -0.557 | Destabilizing | 0.698 | D | 0.508 | neutral | N | 0.460374648 | None | None | N |
| D/C | 0.5143 | ambiguous | 0.4861 | ambiguous | -0.293 | Destabilizing | 0.998 | D | 0.713 | prob.delet. | None | None | None | None | N |
| D/E | 0.1374 | likely_benign | 0.1087 | benign | -0.743 | Destabilizing | 0.014 | N | 0.238 | neutral | N | 0.401267629 | None | None | N |
| D/F | 0.5323 | ambiguous | 0.5052 | ambiguous | -0.055 | Destabilizing | 0.956 | D | 0.737 | prob.delet. | None | None | None | None | N |
| D/G | 0.1695 | likely_benign | 0.1607 | benign | -0.921 | Destabilizing | 0.822 | D | 0.519 | neutral | D | 0.523367334 | None | None | N |
| D/H | 0.1996 | likely_benign | 0.1784 | benign | -0.342 | Destabilizing | 0.992 | D | 0.615 | neutral | N | 0.498855678 | None | None | N |
| D/I | 0.2185 | likely_benign | 0.204 | benign | 0.412 | Stabilizing | 0.092 | N | 0.428 | neutral | None | None | None | None | N |
| D/K | 0.2502 | likely_benign | 0.2026 | benign | -0.556 | Destabilizing | 0.915 | D | 0.551 | neutral | None | None | None | None | N |
| D/L | 0.2136 | likely_benign | 0.1928 | benign | 0.412 | Stabilizing | 0.754 | D | 0.578 | neutral | None | None | None | None | N |
| D/M | 0.4069 | ambiguous | 0.3731 | ambiguous | 0.83 | Stabilizing | 0.988 | D | 0.705 | prob.neutral | None | None | None | None | N |
| D/N | 0.0987 | likely_benign | 0.0995 | benign | -1.002 | Destabilizing | 0.942 | D | 0.511 | neutral | N | 0.442135604 | None | None | N |
| D/P | 0.4461 | ambiguous | 0.4047 | ambiguous | 0.114 | Stabilizing | 0.978 | D | 0.633 | neutral | None | None | None | None | N |
| D/Q | 0.2178 | likely_benign | 0.1756 | benign | -0.834 | Destabilizing | 0.915 | D | 0.555 | neutral | None | None | None | None | N |
| D/R | 0.2828 | likely_benign | 0.2375 | benign | -0.301 | Destabilizing | 0.956 | D | 0.691 | prob.neutral | None | None | None | None | N |
| D/S | 0.1145 | likely_benign | 0.1064 | benign | -1.253 | Destabilizing | 0.754 | D | 0.421 | neutral | None | None | None | None | N |
| D/T | 0.1856 | likely_benign | 0.1617 | benign | -0.956 | Destabilizing | 0.956 | D | 0.555 | neutral | None | None | None | None | N |
| D/V | 0.1305 | likely_benign | 0.1204 | benign | 0.114 | Stabilizing | 0.698 | D | 0.574 | neutral | N | 0.410177901 | None | None | N |
| D/W | 0.7993 | likely_pathogenic | 0.7764 | pathogenic | 0.13 | Stabilizing | 0.998 | D | 0.719 | prob.delet. | None | None | None | None | N |
| D/Y | 0.2086 | likely_benign | 0.1949 | benign | 0.171 | Stabilizing | 0.99 | D | 0.727 | prob.delet. | N | 0.504781573 | 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.