Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6136 | 18631;18632;18633 | chr2:178729847;178729846;178729845 | chr2:179594574;179594573;179594572 |
| N2AB | 5819 | 17680;17681;17682 | chr2:178729847;178729846;178729845 | chr2:179594574;179594573;179594572 |
| N2A | 4892 | 14899;14900;14901 | chr2:178729847;178729846;178729845 | chr2:179594574;179594573;179594572 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/Q | rs117551279  |
0.2 | None | N | 0.164 | 0.076 | None | gnomAD-2.1.1 | 4.53549E-04 | None | None | None | None | I | None | 0 | 5.67E-05 | None | 0 | 5.65553E-03 | None | 3.59501E-04 | None | 0 | 7.81E-06 | 4.20994E-04 |
| R/Q | rs117551279 |
0.2 | None | N | 0.164 | 0.076 | None | gnomAD-3.1.2 | 2.03813E-04 | None | None | None | None | I | None | 0 | 1.31079E-04 | 0 | 0 | 5.61145E-03 | None | 0 | 0 | 0 | 0 | 0 |
| R/Q | rs117551279 |
0.2 | None | N | 0.164 | 0.076 | None | 1000 genomes | 1.19808E-03 | None | None | None | None | I | None | 0 | 0 | None | None | 6E-03 | 0 | None | None | None | 0 | None |
| R/Q | rs117551279 |
0.2 | None | N | 0.164 | 0.076 | None | gnomAD-4.0.0 | 1.26422E-04 | None | None | None | None | I | None | 0 | 1.16733E-04 | None | 0 | 3.14648E-03 | None | 0 | 1.6518E-04 | 5.08589E-06 | 2.96423E-04 | 3.52135E-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 | 0.1257 | likely_benign | 0.1344 | benign | 0.002 | Stabilizing | 0.016 | N | 0.278 | neutral | None | None | None | None | I |
| R/C | 0.1479 | likely_benign | 0.1712 | benign | -0.195 | Destabilizing | 0.864 | D | 0.428 | neutral | None | None | None | None | I |
| R/D | 0.2059 | likely_benign | 0.2283 | benign | -0.073 | Destabilizing | None | N | 0.185 | neutral | None | None | None | None | I |
| R/E | 0.119 | likely_benign | 0.1336 | benign | 0.005 | Stabilizing | 0.007 | N | 0.223 | neutral | None | None | None | None | I |
| R/F | 0.2593 | likely_benign | 0.2979 | benign | -0.143 | Destabilizing | 0.356 | N | 0.474 | neutral | None | None | None | None | I |
| R/G | 0.1081 | likely_benign | 0.1196 | benign | -0.214 | Destabilizing | 0.058 | N | 0.319 | neutral | N | 0.503640714 | None | None | I |
| R/H | 0.0699 | likely_benign | 0.0728 | benign | -0.69 | Destabilizing | None | N | 0.209 | neutral | None | None | None | None | I |
| R/I | 0.1113 | likely_benign | 0.1113 | benign | 0.541 | Stabilizing | 0.356 | N | 0.531 | neutral | None | None | None | None | I |
| R/K | 0.0711 | likely_benign | 0.0735 | benign | -0.106 | Destabilizing | None | N | 0.086 | neutral | None | None | None | None | I |
| R/L | 0.1111 | likely_benign | 0.1174 | benign | 0.541 | Stabilizing | 0.058 | N | 0.386 | neutral | N | 0.496464026 | None | None | I |
| R/M | 0.1169 | likely_benign | 0.1182 | benign | 0.035 | Stabilizing | 0.356 | N | 0.454 | neutral | None | None | None | None | I |
| R/N | 0.1712 | likely_benign | 0.184 | benign | 0.095 | Stabilizing | 0.031 | N | 0.316 | neutral | None | None | None | None | I |
| R/P | 0.5182 | ambiguous | 0.5053 | ambiguous | 0.383 | Stabilizing | 0.232 | N | 0.487 | neutral | N | 0.489428993 | None | None | I |
| R/Q | 0.0683 | likely_benign | 0.0724 | benign | 0.024 | Stabilizing | None | N | 0.164 | neutral | N | 0.429892317 | None | None | I |
| R/S | 0.1336 | likely_benign | 0.143 | benign | -0.255 | Destabilizing | 0.016 | N | 0.309 | neutral | None | None | None | None | I |
| R/T | 0.0724 | likely_benign | 0.0716 | benign | -0.035 | Destabilizing | 0.031 | N | 0.373 | neutral | None | None | None | None | I |
| R/V | 0.1465 | likely_benign | 0.1533 | benign | 0.383 | Stabilizing | 0.072 | N | 0.485 | neutral | None | None | None | None | I |
| R/W | 0.1126 | likely_benign | 0.1229 | benign | -0.17 | Destabilizing | 0.864 | D | 0.438 | neutral | None | None | None | None | I |
| R/Y | 0.1991 | likely_benign | 0.2368 | benign | 0.23 | Stabilizing | 0.072 | N | 0.558 | neutral | None | None | None | None | I |
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.