Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28474 | 85645;85646;85647 | chr2:178560712;178560711;178560710 | chr2:179425439;179425438;179425437 |
| N2AB | 26833 | 80722;80723;80724 | chr2:178560712;178560711;178560710 | chr2:179425439;179425438;179425437 |
| N2A | 25906 | 77941;77942;77943 | chr2:178560712;178560711;178560710 | chr2:179425439;179425438;179425437 |
| N2B | 19409 | 58450;58451;58452 | chr2:178560712;178560711;178560710 | chr2:179425439;179425438;179425437 |
| Novex-1 | 19534 | 58825;58826;58827 | chr2:178560712;178560711;178560710 | chr2:179425439;179425438;179425437 |
| Novex-2 | 19601 | 59026;59027;59028 | chr2:178560712;178560711;178560710 | chr2:179425439;179425438;179425437 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs757771061  |
-0.037 | 0.964 | N | 0.44 | 0.257 | 0.60657190734 | gnomAD-2.1.1 | 2.86E-05 | None | None | None | None | N | None | 4.14E-05 | 5.66E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 2.35E-05 | 1.40449E-04 |
| R/C | rs757771061 |
-0.037 | 0.964 | N | 0.44 | 0.257 | 0.60657190734 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.77555E-04 |
| R/C | rs757771061 |
-0.037 | 0.964 | N | 0.44 | 0.257 | 0.60657190734 | gnomAD-4.0.0 | 1.42549E-05 | None | None | None | None | N | None | 4.00545E-05 | 5.002E-05 | None | 0 | 4.46648E-05 | None | 0 | 1.6442E-04 | 6.78083E-06 | 1.09796E-05 | 8.00589E-05 |
| R/H | rs754356257 |
-0.972 | 0.877 | N | 0.52 | 0.217 | 0.162503812791 | gnomAD-2.1.1 | 1.68043E-04 | None | None | None | None | N | None | 4.14E-05 | 2.83E-05 | None | 0 | 0 | None | 1.43819E-03 | None | 0 | 7.82E-06 | 0 |
| R/H | rs754356257 |
-0.972 | 0.877 | N | 0.52 | 0.217 | 0.162503812791 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 6.20604E-04 | 0 |
| R/H | rs754356257 |
-0.972 | 0.877 | N | 0.52 | 0.217 | 0.162503812791 | gnomAD-4.0.0 | 8.98657E-05 | None | None | None | None | N | None | 2.67001E-05 | 1.66783E-05 | None | 0 | 2.23274E-05 | None | 0 | 0 | 2.28854E-05 | 1.16371E-03 | 1.28098E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.1616 | likely_benign | 0.1511 | benign | 0.052 | Stabilizing | None | N | 0.208 | neutral | None | None | None | None | N |
| R/C | 0.1037 | likely_benign | 0.0964 | benign | -0.25 | Destabilizing | 0.964 | D | 0.44 | neutral | N | 0.493084499 | None | None | N |
| R/D | 0.4268 | ambiguous | 0.4178 | ambiguous | -0.309 | Destabilizing | 0.072 | N | 0.463 | neutral | None | None | None | None | N |
| R/E | 0.2232 | likely_benign | 0.2116 | benign | -0.207 | Destabilizing | 0.031 | N | 0.381 | neutral | None | None | None | None | N |
| R/F | 0.2643 | likely_benign | 0.252 | benign | -0.091 | Destabilizing | 0.628 | D | 0.473 | neutral | None | None | None | None | N |
| R/G | 0.1836 | likely_benign | 0.1616 | benign | -0.168 | Destabilizing | 0.058 | N | 0.303 | neutral | N | 0.436191066 | None | None | N |
| R/H | 0.0851 | likely_benign | 0.0881 | benign | -0.877 | Destabilizing | 0.877 | D | 0.52 | neutral | N | 0.43043853 | None | None | N |
| R/I | 0.1302 | likely_benign | 0.1188 | benign | 0.606 | Stabilizing | 0.136 | N | 0.541 | neutral | None | None | None | None | N |
| R/K | 0.0823 | likely_benign | 0.0863 | benign | -0.041 | Destabilizing | 0.031 | N | 0.289 | neutral | None | None | None | None | N |
| R/L | 0.1169 | likely_benign | 0.1101 | benign | 0.606 | Stabilizing | 0.058 | N | 0.368 | neutral | N | 0.425416712 | None | None | N |
| R/M | 0.1543 | likely_benign | 0.1501 | benign | -0.068 | Destabilizing | 0.628 | D | 0.513 | neutral | None | None | None | None | N |
| R/N | 0.3292 | likely_benign | 0.3318 | benign | -0.06 | Destabilizing | 0.136 | N | 0.431 | neutral | None | None | None | None | N |
| R/P | 0.0964 | likely_benign | 0.089 | benign | 0.442 | Stabilizing | None | N | 0.271 | neutral | N | 0.288710128 | None | None | N |
| R/Q | 0.0893 | likely_benign | 0.0856 | benign | -0.016 | Destabilizing | 0.136 | N | 0.444 | neutral | None | None | None | None | N |
| R/S | 0.2467 | likely_benign | 0.2329 | benign | -0.267 | Destabilizing | 0.03 | N | 0.321 | neutral | N | 0.439172656 | None | None | N |
| R/T | 0.1549 | likely_benign | 0.1467 | benign | -0.013 | Destabilizing | 0.031 | N | 0.371 | neutral | None | None | None | None | N |
| R/V | 0.1766 | likely_benign | 0.1558 | benign | 0.442 | Stabilizing | 0.031 | N | 0.393 | neutral | None | None | None | None | N |
| R/W | 0.1339 | likely_benign | 0.1233 | benign | -0.217 | Destabilizing | 0.864 | D | 0.465 | neutral | None | None | None | None | N |
| R/Y | 0.1951 | likely_benign | 0.1884 | benign | 0.196 | Stabilizing | 0.628 | D | 0.497 | 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.