Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26821 | 80686;80687;80688 | chr2:178565671;178565670;178565669 | chr2:179430398;179430397;179430396 |
| N2AB | 25180 | 75763;75764;75765 | chr2:178565671;178565670;178565669 | chr2:179430398;179430397;179430396 |
| N2A | 24253 | 72982;72983;72984 | chr2:178565671;178565670;178565669 | chr2:179430398;179430397;179430396 |
| N2B | 17756 | 53491;53492;53493 | chr2:178565671;178565670;178565669 | chr2:179430398;179430397;179430396 |
| Novex-1 | 17881 | 53866;53867;53868 | chr2:178565671;178565670;178565669 | chr2:179430398;179430397;179430396 |
| Novex-2 | 17948 | 54067;54068;54069 | chr2:178565671;178565670;178565669 | chr2:179430398;179430397;179430396 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs200489046  |
-0.454 | 0.901 | N | 0.585 | 0.351 | None | gnomAD-2.1.1 | 8.46E-05 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78301E-04 | 0 |
| P/L | rs200489046 |
-0.454 | 0.901 | N | 0.585 | 0.351 | None | gnomAD-3.1.2 | 8.56E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 6.32911E-03 | 1.61827E-04 | 0 | 0 |
| P/L | rs200489046 |
-0.454 | 0.901 | N | 0.585 | 0.351 | None | gnomAD-4.0.0 | 1.88417E-04 | None | None | None | None | N | None | 2.66902E-05 | 0 | None | 0 | 0 | None | 0 | 4.95213E-04 | 2.49232E-04 | 0 | 8.00512E-05 |
| P/S | rs560861418 |
-1.589 | 0.034 | N | 0.311 | 0.145 | 0.154104182512 | 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 |
| P/S | rs560861418 |
-1.589 | 0.034 | N | 0.311 | 0.145 | 0.154104182512 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| P/S | rs560861418 |
-1.589 | 0.034 | N | 0.311 | 0.145 | 0.154104182512 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| P/S | rs560861418 |
-1.589 | 0.034 | N | 0.311 | 0.145 | 0.154104182512 | gnomAD-4.0.0 | 3.71853E-06 | None | None | None | None | N | None | 0 | 1.66711E-05 | None | 0 | 0 | None | 0 | 0 | 8.47728E-07 | 4.39174E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0845 | likely_benign | 0.0858 | benign | -1.439 | Destabilizing | 0.034 | N | 0.346 | neutral | N | 0.461646871 | None | None | N |
| P/C | 0.4881 | ambiguous | 0.5065 | ambiguous | -1.035 | Destabilizing | 0.996 | D | 0.666 | neutral | None | None | None | None | N |
| P/D | 0.5734 | likely_pathogenic | 0.551 | ambiguous | -1.066 | Destabilizing | 0.633 | D | 0.509 | neutral | None | None | None | None | N |
| P/E | 0.2866 | likely_benign | 0.2664 | benign | -1.08 | Destabilizing | 0.024 | N | 0.307 | neutral | None | None | None | None | N |
| P/F | 0.4997 | ambiguous | 0.4965 | ambiguous | -1.218 | Destabilizing | 0.961 | D | 0.667 | neutral | None | None | None | None | N |
| P/G | 0.2936 | likely_benign | 0.2942 | benign | -1.744 | Destabilizing | 0.633 | D | 0.546 | neutral | None | None | None | None | N |
| P/H | 0.2664 | likely_benign | 0.2598 | benign | -1.252 | Destabilizing | 0.986 | D | 0.64 | neutral | N | 0.495740802 | None | None | N |
| P/I | 0.2706 | likely_benign | 0.2818 | benign | -0.713 | Destabilizing | 0.961 | D | 0.667 | neutral | None | None | None | None | N |
| P/K | 0.2969 | likely_benign | 0.2803 | benign | -1.051 | Destabilizing | 0.633 | D | 0.51 | neutral | None | None | None | None | N |
| P/L | 0.1108 | likely_benign | 0.1023 | benign | -0.713 | Destabilizing | 0.901 | D | 0.585 | neutral | N | 0.479040553 | None | None | N |
| P/M | 0.2442 | likely_benign | 0.2392 | benign | -0.566 | Destabilizing | 0.996 | D | 0.637 | neutral | None | None | None | None | N |
| P/N | 0.365 | ambiguous | 0.3701 | ambiguous | -0.825 | Destabilizing | 0.858 | D | 0.603 | neutral | None | None | None | None | N |
| P/Q | 0.1586 | likely_benign | 0.1493 | benign | -1.018 | Destabilizing | 0.858 | D | 0.567 | neutral | None | None | None | None | N |
| P/R | 0.2246 | likely_benign | 0.2094 | benign | -0.541 | Destabilizing | 0.901 | D | 0.63 | neutral | N | 0.441426314 | None | None | N |
| P/S | 0.1523 | likely_benign | 0.1508 | benign | -1.385 | Destabilizing | 0.034 | N | 0.311 | neutral | N | 0.443810472 | None | None | N |
| P/T | 0.1169 | likely_benign | 0.1202 | benign | -1.283 | Destabilizing | 0.565 | D | 0.507 | neutral | N | 0.4460427 | None | None | N |
| P/V | 0.1784 | likely_benign | 0.1869 | benign | -0.92 | Destabilizing | 0.923 | D | 0.55 | neutral | None | None | None | None | N |
| P/W | 0.6631 | likely_pathogenic | 0.6453 | pathogenic | -1.353 | Destabilizing | 0.996 | D | 0.687 | prob.neutral | None | None | None | None | N |
| P/Y | 0.4602 | ambiguous | 0.4717 | ambiguous | -1.059 | Destabilizing | 0.987 | D | 0.67 | 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.