Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 72 | 439;440;441 | chr2:178802219;178802218;178802217 | chr2:179666946;179666945;179666944 |
| N2AB | 72 | 439;440;441 | chr2:178802219;178802218;178802217 | chr2:179666946;179666945;179666944 |
| N2A | 72 | 439;440;441 | chr2:178802219;178802218;178802217 | chr2:179666946;179666945;179666944 |
| N2B | 72 | 439;440;441 | chr2:178802219;178802218;178802217 | chr2:179666946;179666945;179666944 |
| Novex-1 | 72 | 439;440;441 | chr2:178802219;178802218;178802217 | chr2:179666946;179666945;179666944 |
| Novex-2 | 72 | 439;440;441 | chr2:178802219;178802218;178802217 | chr2:179666946;179666945;179666944 |
| Novex-3 | 72 | 439;440;441 | chr2:178802219;178802218;178802217 | chr2:179666946;179666945;179666944 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | None | None | None | N | 0.1 | 0.208 | 0.134241683229 | gnomAD-4.0.0 | 2.05223E-06 | None | None | None | -0.014(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 3.3117E-05 |
| K/T | rs1200039660  |
-0.19 | 0.006 | N | 0.257 | 0.136 | 0.183819452728 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -0.515(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.8E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.182 | likely_benign | 0.2103 | benign | -0.028 | Destabilizing | None | N | 0.127 | neutral | None | None | None | -0.301(TCAP) | N |
| K/C | 0.9367 | likely_pathogenic | 0.9541 | pathogenic | -0.237 | Destabilizing | 0.65 | D | 0.215 | neutral | None | None | None | -0.113(TCAP) | N |
| K/D | 0.5084 | ambiguous | 0.5793 | pathogenic | 0.093 | Stabilizing | 0.014 | N | 0.257 | neutral | None | None | None | 0.04(TCAP) | N |
| K/E | 0.1276 | likely_benign | 0.1429 | benign | 0.1 | Stabilizing | None | N | 0.1 | neutral | N | 0.443776021 | None | -0.014(TCAP) | N |
| K/F | 0.8247 | likely_pathogenic | 0.8679 | pathogenic | -0.222 | Destabilizing | 0.164 | N | 0.253 | neutral | None | None | None | -0.196(TCAP) | N |
| K/G | 0.3872 | ambiguous | 0.4315 | ambiguous | -0.233 | Destabilizing | 0.014 | N | 0.256 | neutral | None | None | None | -0.278(TCAP) | N |
| K/H | 0.4362 | ambiguous | 0.4824 | ambiguous | -0.517 | Destabilizing | 0.091 | N | 0.247 | neutral | None | None | None | 0.109(TCAP) | N |
| K/I | 0.3842 | ambiguous | 0.4324 | ambiguous | 0.435 | Stabilizing | 0.002 | N | 0.312 | neutral | N | 0.449771049 | None | -0.375(TCAP) | N |
| K/L | 0.3207 | likely_benign | 0.3568 | ambiguous | 0.435 | Stabilizing | 0.001 | N | 0.258 | neutral | None | None | None | -0.375(TCAP) | N |
| K/M | 0.231 | likely_benign | 0.2525 | benign | 0.259 | Stabilizing | 0.056 | N | 0.243 | neutral | None | None | None | 0.276(TCAP) | N |
| K/N | 0.3524 | ambiguous | 0.4058 | ambiguous | 0.19 | Stabilizing | 0.05 | N | 0.218 | neutral | N | 0.456216251 | None | -0.596(TCAP) | N |
| K/P | 0.3717 | ambiguous | 0.4415 | ambiguous | 0.309 | Stabilizing | 0.123 | N | 0.301 | neutral | None | None | None | -0.35(TCAP) | N |
| K/Q | 0.1276 | likely_benign | 0.1412 | benign | -0.004 | Destabilizing | None | N | 0.171 | neutral | N | 0.454183808 | None | -0.417(TCAP) | N |
| K/R | 0.1023 | likely_benign | 0.1057 | benign | -0.06 | Destabilizing | 0.002 | N | 0.239 | neutral | N | 0.442534625 | None | -0.627(TCAP) | N |
| K/S | 0.2878 | likely_benign | 0.3324 | benign | -0.325 | Destabilizing | 0.014 | N | 0.215 | neutral | None | None | None | -0.484(TCAP) | N |
| K/T | 0.1224 | likely_benign | 0.134 | benign | -0.168 | Destabilizing | 0.006 | N | 0.257 | neutral | N | 0.449591886 | None | -0.515(TCAP) | N |
| K/V | 0.3096 | likely_benign | 0.3453 | ambiguous | 0.309 | Stabilizing | 0.001 | N | 0.266 | neutral | None | None | None | -0.35(TCAP) | N |
| K/W | 0.87 | likely_pathogenic | 0.9003 | pathogenic | -0.212 | Destabilizing | 0.894 | D | 0.208 | neutral | None | None | None | -0.116(TCAP) | N |
| K/Y | 0.7341 | likely_pathogenic | 0.7785 | pathogenic | 0.141 | Stabilizing | 0.022 | N | 0.269 | neutral | None | None | None | -0.142(TCAP) | 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.